Gå til indhold
Brug dine HSA- eller FSA-midler

Tilstandsrapport · Neurologiske

Arvelige neurodegenerative sygdomme

Helgenomsekventering undersøger KIF5A, UNC80, AGTPBP1, TBCD, TBCE, QARS1, SLC30A9, ALS2 og TUBB4A for ændringer, der forårsager arvelige sygdomme, hvor dele af nervesystemet udvikler sig unormalt eller med tiden mister funktion.

En tilstandsrapport undersøger sjældne varianter, der er kendt for at forårsage de tilstande, rapporten dækker.

Inkluderet i Premium og Premium + AI

Premium tilføjer 99 $ pr. kit for det første år.

Bestil med Premium

Om denne condition

En gruppe sjældne arvelige sygdomme, hvor dele af nervesystemet udvikler sig unormalt eller mister funktion over tid. Denne rapport dækker sygdomme forårsaget af KIF5A, UNC80, AGTPBP1, TBCD, TBCE, QARS1, SLC30A9, ALS2 og TUBB4A.

Arvelige neurodegenerative sygdomme er en gruppe sjældne tilstande, hvor dele af nervesystemet udvikler sig unormalt eller med tiden mister funktion. Denne rapport dækker ni udvalgte gener, og symptomerne spænder fra udviklingsproblemer i barndommen til motoneuronsygdom, der begynder i voksenalderen.

Sygdommene skyldes ændringer i en eller begge kopier af disse gener. Ændringer i én kopi af KIF5A kan give hereditær spastisk paraplegi, en aksonal form for Charcot-Marie-Tooths sygdom eller ALS, afhængigt af hvor ændringen sidder. Andre tilstande, såsom UNC80-mangel, AGTPBP1-relateret cerebellar atrofi og TBCD-relateret encefalopati, kræver ændringer i begge kopier.

Sygdomsbilledet varierer. Nogle børn har svær udviklingsforsinkelse og lidt eller intet sprog, som ved UNC80-mangel. Andre har progressiv stivhed og svaghed i benene, som ved ALS2-relateret sygdom, eller tidlige krampeanfald med progressiv mikrocefali, som ved QARS1-relateret sygdom.

De fleste af disse tilstande arves autosomalt recessivt, mens ændringer i KIF5A og TUBB4A er dominante. Behandlingen er understøttende og symptomlindrende, og genetisk rådgivning hjælper familier med at forstå deres risici. Et negativt resultat udelukker ikke en arvelig neurodegenerativ tilstand.

De 8 tilstande, vi analyserer

KIF5A-relateret neurodegenerativ sygdom

Autosomal dominant

Forårsaget af ændringer i den ene kopi af KIF5A, som koder for et motorprotein med en hale, der binder last. Forskellige typer ændringer fører til forskellige sygdomme: hereditær spastisk paraplegi type 10, en aksonal form for Charcot-Marie-Tooths sygdom og amyotrofisk lateral sklerose (ALS).

Tegn og symptomer

Spastisk paraplegi giver progressiv stivhed og svaghed i benene, nogle gange med nerveskade i hænder og fødder. Ændringer nær genets ende er forbundet med ALS, som typisk begynder i voksenalderen med progressiv muskelsvaghed.

Hvad en diagnose ændrer

Behandlingen er symptomatisk og afhænger af sygdomsbilledet og omfatter fysioterapi, medicin mod spasticitet og tværfaglig ALS-behandling. Hvert barn af en berørt person har 1 ud af 2 chance for at arve ændringen; genetisk rådgivning hjælper familier med at forstå dette.

Analyserede gener

Også kendt som

genetic neurodegenerative disease; hereditary neurodegenerative disease; hereditary neurodegenerative disorder

Specifikke former, der også er dækket

  • UNC80-mangel (Infantil hypotoni med psykomotorisk forsinkelse og karakteristisk ansigtsform 2)

    Autosomal recessiv

    Forårsaget af ændringer i begge kopier af UNC80. Berørte børn har svær udviklingsforsinkelse og lidt eller ingen tale.

    UNC80

  • AGTPBP1-relateret neurodegeneration med cerebellar atrofi

    Autosomal recessiv

    Forårsaget af ændringer i begge kopier af AGTPBP1. Tab af genet fører til degeneration af nerveceller i lillehjernen og motoriske nerveceller, svarende til 'Purkinje-celledegeneration'-musen.

    AGTPBP1

  • TBCD-relateret progressiv encefalopati med hjerneatrofi

    Autosomal recessiv

    Forårsaget af ændringer i begge kopier af TBCD, som koder for en tubulinfoldningskofaktor, der er nødvendig for tubulinets integritet i motoriske nerveceller og centralnervesystemet.

    TBCD, TBCE

  • QARS1-relateret progressiv mikrocefali med krampeanfald og hjerneatrofi

    Autosomal recessiv

    Forårsaget af ændringer i begge kopier af QARS1, som koder for glutaminyl-tRNA-syntetase, et enzym der er nødvendigt for at opbygge proteiner. Nedsat enzymaktivitet påvirker især den udviklende hjerne.

    QARS1

  • Birk-Landau-Perez syndrom (SLC30A9)

    Autosomal recessiv

    Forårsaget af ændringer i begge kopier af SLC30A9, som koder for en zinktransportør placeret i mitokondrier og andre cellerum. Sygdommen blev første gang beskrevet i en stor familie med slægtskab, og kun få familier er rapporteret.

    SLC30A9

  • ALS2-relateret motorisk neuronsygdom

    Autosomal recessiv

    Forårsaget af ændringer i begge kopier af ALS2, som koder for alsin, et protein der er involveret i membrantransport i motoriske nerveceller. Ændringerne rammer primært de øvre motoriske neuroner, der løber fra hjernen til rygmarven.

    ALS2

  • TUBB4A-relateret neurologisk sygdom

    Autosomal dominant

    Forårsaget af ændringer i den ene kopi af TUBB4A. De fleste tilfælde er simplex, og opstår enten fra nye (de novo) ændringer eller fra ændringer arvet fra en mosaikforælder.

    TUBB4A

Omfatter 827 beslægtede undertyper ↓
  • AARS1-related leukoencephalopathy
  • ABeta amyloidosis, Arctic type
  • ABeta amyloidosis, dutch type
  • ABeta amyloidosis, Iowa type
  • ABeta amyloidosis, Italian type
  • ABetaA21G amyloidosis
  • ABetaL34V amyloidosis
  • abetalipoproteinemia
  • ABri amyloidosis
  • aceruloplasminemia
  • ACO2-related optic atrophy with or without extraocular features
  • acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
  • ADan amyloidosis
  • ADAR-related hereditary spastic paraplegia
  • adrenoleukodystrophy
  • adrenomyeloneuropathy
  • adult Krabbe disease
  • adult neuronal ceroid lipofuscinosis
  • adult neuronal ceroid lipofuscinosis 1
  • adult neuronal ceroid lipofuscinosis 5
  • adult Refsum disease due to PEX7 defect
  • adult-onset autosomal dominant demyelinating leukodystrophy
  • adult-onset progressive leukoencephalopathy-early-onset deafness
  • adult-onset proximal spinal muscular atrophy, autosomal dominant
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aicardi-Goutieres syndrome
  • Aicardi-Goutieres syndrome 1
  • Aicardi-Goutieres syndrome 2
  • Aicardi-Goutieres syndrome 3
  • Aicardi-Goutieres syndrome 4
  • Aicardi-Goutieres syndrome 5
  • Aicardi-Goutieres syndrome 6
  • Aicardi-Goutieres syndrome 7
  • Aicardi-Goutieres syndrome 8
  • Aicardi-Goutieres syndrome 9
  • Al Gazali Khidr Prem Chandran syndrome
  • Alexander disease
  • Alexander disease type I
  • Alexander disease type II
  • alkaline ceramidase 3 deficiency
  • ALS2-related motor neuron disease
  • Alzheimer disease 10
  • Alzheimer disease 11
  • Alzheimer disease 12
  • Alzheimer disease 13
  • Alzheimer disease 14
  • Alzheimer disease 17
  • Alzheimer disease 18
  • Alzheimer disease 2
  • Alzheimer disease 3
  • Alzheimer disease 4
  • Alzheimer disease 5
  • Alzheimer disease 6
  • Alzheimer disease 7
  • Alzheimer disease 8
  • Alzheimer disease type 1
  • Alzheimer disease without neurofibrillary tangles
  • Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology
  • amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
  • amyotrophic lateral sclerosis 27, juvenile
  • amyotrophic lateral sclerosis 28
  • amyotrophic lateral sclerosis type 1
  • amyotrophic lateral sclerosis type 10
  • amyotrophic lateral sclerosis type 11
  • amyotrophic lateral sclerosis type 12
  • amyotrophic lateral sclerosis type 15
  • amyotrophic lateral sclerosis type 16
  • amyotrophic lateral sclerosis type 18
  • amyotrophic lateral sclerosis type 19
  • amyotrophic lateral sclerosis type 2, juvenile
  • amyotrophic lateral sclerosis type 20
  • amyotrophic lateral sclerosis type 21
  • amyotrophic lateral sclerosis type 22
  • amyotrophic lateral sclerosis type 23
  • amyotrophic lateral sclerosis type 3
  • amyotrophic lateral sclerosis type 4
  • amyotrophic lateral sclerosis type 5
  • amyotrophic lateral sclerosis type 6
  • amyotrophic lateral sclerosis type 7
  • amyotrophic lateral sclerosis type 8
  • amyotrophic lateral sclerosis type 9
  • amyotrophic lateral sclerosis-parkinsonism-dementia complex
  • angioid streaks of choroid
  • APP-related brain and vascular amyloidosis
  • ataxia - deafness - intellectual disability syndrome
  • ataxia - oculomotor apraxia type 4
  • ataxia telangiectasia
  • ataxia with oculomotor apraxia type 3
  • ataxia-pancytopenia syndrome
  • ataxia-telangiectasia with generalized skin pigmentation and early death
  • ataxia-telangiectasia-like disorder
  • ataxia-telangiectasia-like disorder 1
  • ataxia-telangiectasia-like disorder 2
  • ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • attenuated Chédiak-Higashi syndrome
  • atypical pantothenate kinase-associated neurodegeneration
  • atypical progressive supranuclear palsy syndrome
  • autosomal dominant cerebellar ataxia
  • autosomal dominant cerebellar ataxia type I
  • autosomal dominant cerebellar ataxia type III
  • autosomal dominant cerebellar ataxia type IV
  • autosomal dominant cerebellar ataxia, deafness and narcolepsy
  • autosomal dominant childhood-onset proximal spinal muscular atrophy
  • autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
  • autosomal dominant complex spastic paraplegia
  • autosomal dominant complex spastic paraplegia type 9B
  • autosomal dominant optic atrophy and peripheral neuropathy
  • autosomal dominant optic atrophy plus syndrome
  • autosomal dominant optic atrophy, classic form
  • autosomal dominant spastic paraplegia type 9
  • autosomal dominant striatal neurodegeneration type 1
  • autosomal recessive ataxia due to PEX10 deficiency
  • autosomal recessive ataxia due to ubiquinone deficiency
  • autosomal recessive ataxia, Beauce type
  • autosomal recessive cerebellar ataxia
  • autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
  • autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
  • autosomal recessive cerebellar ataxia with late-onset spasticity
  • autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
  • autosomal recessive cerebral atrophy
  • autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
  • autosomal recessive complex spastic paraplegia type 9B
  • autosomal recessive congenital cerebellar ataxia
  • autosomal recessive degenerative and progressive cerebellar ataxia
  • autosomal recessive distal spinal muscular atrophy 1
  • autosomal recessive distal spinal muscular atrophy 2
  • autosomal recessive metabolic cerebellar ataxia
  • autosomal recessive optic atrophy, OPA7 type
  • autosomal recessive Parkinson disease 14
  • autosomal recessive spastic paraplegia type 59
  • autosomal recessive spastic paraplegia type 60
  • autosomal recessive spastic paraplegia type 66
  • autosomal recessive spastic paraplegia type 67
  • autosomal recessive spastic paraplegia type 68
  • autosomal recessive spastic paraplegia type 69
  • autosomal recessive spastic paraplegia type 70
  • autosomal recessive spastic paraplegia type 71
  • autosomal recessive spastic paraplegia type 76
  • autosomal recessive spastic paraplegia type 78
  • autosomal recessive spinocerebellar ataxia 10
  • autosomal recessive spinocerebellar ataxia 11
  • autosomal recessive spinocerebellar ataxia 12
  • autosomal recessive spinocerebellar ataxia 13
  • autosomal recessive spinocerebellar ataxia 14
  • autosomal recessive spinocerebellar ataxia 15
  • autosomal recessive spinocerebellar ataxia 16
  • autosomal recessive spinocerebellar ataxia 17
  • autosomal recessive spinocerebellar ataxia 18
  • autosomal recessive spinocerebellar ataxia 2
  • autosomal recessive spinocerebellar ataxia 20
  • autosomal recessive spinocerebellar ataxia 7
  • autosomal recessive syndromic cerebellar ataxia
  • basal ganglia calcification, idiopathic, childhood-onset
  • behavioral variant of frontotemporal dementia
  • BLOC1S1-related complex neurodevelopmental disorder with leukodystrophy
  • boylan dew greco syndrome
  • Brown-Vialetto-van Laere syndrome 1
  • Brown-Vialetto-van Laere syndrome 2
  • bulbospinal muscular atrophy
  • c11orf73-related autosomal recessive hypomyelinating leukodystrophy
  • CADDS
  • CAMOS syndrome
  • Canavan disease
  • Cayman type cerebellar ataxia
  • cerebellar ataxia and hypergonadotropic hypogonadism
  • cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
  • cerebellar ataxia-hypogonadism syndrome
  • cerebellar ataxia, intellectual disability, and dysequilibrium
  • cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
  • cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
  • cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3
  • cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4
  • cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • cerebral amyloid angiopathy, APP-related
  • cerebral sclerosis similar to Pelizaeus-Merzbacher disease
  • cerebrotendinous xanthomatosis
  • ceroid lipofuscinosis, neuronal, 4 (Kufs type)
  • ceroid lipofuscinosis, neuronal, 6A
  • ceroid lipofuscinosis, neuronal, 6B (Kufs type)
  • Charcot-Marie-Tooth disease type 5
  • Charlevoix-Saguenay spastic ataxia
  • Chediak-Higashi syndrome
  • childhood-onset benign chorea with striatal involvement
  • classic pantothenate kinase-associated neurodegeneration
  • COACH syndrome
  • COACH syndrome 1
  • COACH syndrome 2
  • COACH syndrome 3
  • combined oxidative phosphorylation deficiency 29
  • complex hereditary spastic paraplegia
  • congenital cataracts-facial dysmorphism-neuropathy syndrome
  • congenital cerebellar ataxia due to RNU12 mutation
  • congenital neuronal ceroid lipofuscinosis
  • congenital neuronal ceroid lipofuscinosis 10
  • congenital or early infantile CACH syndrome
  • corticobasal syndrome
  • cystic leukoencephalopathy without megalencephaly
  • DCTN1-related neurodegeneration
  • deafness dystonia syndrome
  • dentatorubral-pallidoluysian atrophy
  • dermatoleukodystrophy
  • developmental and epileptic encephalopathy, 29
  • developmental and epileptic encephalopathy, 35
  • diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
  • distal hereditary motor neuropathy
  • distal hereditary motor neuropathy type 2
  • distal hereditary motor neuropathy type 7
  • dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
  • early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy
  • early-onset autosomal dominant Alzheimer disease
  • early-onset calcifying leukoencephalopathy-skeletal dysplasia
  • early-onset cerebellar ataxia with retained tendon reflexes
  • early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
  • early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
  • early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
  • encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
  • encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
  • encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
  • episodic memory defect leukoencephalopathy
  • facial onset sensory and motor neuronopathy
  • familial Alzheimer disease
  • familial amyotrophic lateral sclerosis
  • familial infantile bilateral striatal necrosis
  • familial isolated deficiency of vitamin E
  • fatal familial insomnia
  • fatal post-viral neurodegenerative disorder
  • fatty acid hydroxylase-associated neurodegeneration
  • ferro-cerebro-cutaneous syndrome
  • FLVCR1-related retinopathy with or without ataxia
  • fragile X-associated tremor/ataxia syndrome
  • Friedreich ataxia
  • Friedreich ataxia 1
  • Friedreich ataxia 2
  • Friedreich ataxia with retained reflexes
  • frontotemporal dementia
  • frontotemporal dementia and/or amyotrophic lateral sclerosis
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 1
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 4
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 5
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 6
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 7
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 8
  • frontotemporal dementia with motor neuron disease
  • frontotemporal dementia, right temporal atrophy variant
  • Gemignani syndrome
  • glutamate pyruvate transaminase 2 deficiency
  • GM2 gangliosidosis
  • GRID2-related autosomal dominant spinocerebellar ataxia
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • hereditary cerebellar ataxia
  • hereditary motor neuron disease
  • hereditary optic atrophy
  • hereditary sensory and autonomic neuropathy with spastic paraplegia
  • hereditary sensory neuropathy-deafness-dementia syndrome
  • hereditary spastic paraplegia
  • hereditary spastic paraplegia 10
  • hereditary spastic paraplegia 11
  • hereditary spastic paraplegia 12
  • hereditary spastic paraplegia 13
  • hereditary spastic paraplegia 14
  • hereditary spastic paraplegia 15
  • hereditary spastic paraplegia 16
  • hereditary spastic paraplegia 17
  • hereditary spastic paraplegia 18
  • hereditary spastic paraplegia 19
  • hereditary spastic paraplegia 2
  • hereditary spastic paraplegia 23
  • hereditary spastic paraplegia 24
  • hereditary spastic paraplegia 25
  • hereditary spastic paraplegia 26
  • hereditary spastic paraplegia 27
  • hereditary spastic paraplegia 28
  • hereditary spastic paraplegia 29
  • hereditary spastic paraplegia 30
  • hereditary spastic paraplegia 31
  • hereditary spastic paraplegia 32
  • hereditary spastic paraplegia 33
  • hereditary spastic paraplegia 34
  • hereditary spastic paraplegia 35
  • hereditary spastic paraplegia 36
  • hereditary spastic paraplegia 37
  • hereditary spastic paraplegia 38
  • hereditary spastic paraplegia 39
  • hereditary spastic paraplegia 3A
  • hereditary spastic paraplegia 4
  • hereditary spastic paraplegia 41
  • hereditary spastic paraplegia 42
  • hereditary spastic paraplegia 43
  • hereditary spastic paraplegia 44
  • hereditary spastic paraplegia 45
  • hereditary spastic paraplegia 46
  • hereditary spastic paraplegia 47
  • hereditary spastic paraplegia 48
  • hereditary spastic paraplegia 49
  • hereditary spastic paraplegia 50
  • hereditary spastic paraplegia 51
  • hereditary spastic paraplegia 52
  • hereditary spastic paraplegia 53
  • hereditary spastic paraplegia 54
  • hereditary spastic paraplegia 55
  • hereditary spastic paraplegia 56
  • hereditary spastic paraplegia 57
  • hereditary spastic paraplegia 5A
  • hereditary spastic paraplegia 6
  • hereditary spastic paraplegia 61
  • hereditary spastic paraplegia 62
  • hereditary spastic paraplegia 63
  • hereditary spastic paraplegia 64
  • hereditary spastic paraplegia 7
  • hereditary spastic paraplegia 72
  • hereditary spastic paraplegia 73
  • hereditary spastic paraplegia 74
  • hereditary spastic paraplegia 75
  • hereditary spastic paraplegia 77
  • hereditary spastic paraplegia 8
  • hereditary spastic paraplegia 9A
  • Huntington disease
  • Huntington disease and related disorders
  • Huntington disease-like 1
  • Huntington disease-like 2
  • Huntington disease-like 3
  • Huntington disease-like syndrome
  • Huntington disease-like syndrome due to C9ORF72 expansions
  • hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
  • hypomyelination with brain stem and spinal cord involvement and leg spasticity
  • hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
  • hypotonia, infantile, with psychomotor retardation and characteristic facies
  • hypotonia, infantile, with psychomotor retardation and characteristic facies 1
  • hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • IFIH1-related hereditary spastic paraplegia
  • inclusion body myopathy and brain white matter abnormalities
  • inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
  • inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
  • inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
  • infantile cerebellar-retinal degeneration
  • infantile Krabbe disease
  • infantile neuronal ceroid lipofuscinosis
  • infantile neuronal ceroid lipofuscinosis 1
  • infantile neuronal ceroid lipofuscinosis 2
  • infantile-onset ascending hereditary spastic paralysis
  • infantile-onset autosomal recessive nonprogressive cerebellar ataxia
  • infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
  • infantile-onset X-linked spinal muscular atrophy
  • inherited Creutzfeldt-Jakob disease
  • isolated adrenal insufficiency
  • ITM2B amyloidosis
  • Joubert syndrome 14
  • Joubert syndrome 15
  • Joubert syndrome 16
  • Joubert syndrome 2
  • Joubert syndrome 20
  • Joubert syndrome 21
  • Joubert syndrome 28
  • Joubert syndrome 3
  • Joubert syndrome 5
  • Joubert syndrome 9
  • Joubert syndrome and related disorders
  • Joubert syndrome with Jeune asphyxiating thoracic dystrophy
  • Joubert syndrome with ocular defect
  • Joubert syndrome with oculorenal defect
  • juvenile amyotrophic lateral sclerosis
  • juvenile amyotrophic lateral sclerosis with dementia
  • juvenile Huntington disease
  • juvenile neuronal ceroid lipofuscinosis
  • juvenile neuronal ceroid lipofuscinosis 1
  • juvenile neuronal ceroid lipofuscinosis 10
  • juvenile neuronal ceroid lipofuscinosis 2
  • juvenile neuronal ceroid lipofuscinosis 3
  • juvenile neuronal ceroid lipofuscinosis 5
  • juvenile neuronal ceroid lipofuscinosis 6
  • juvenile or adult CACH syndrome
  • juvenile primary lateral sclerosis
  • Kennedy disease
  • Krabbe disease
  • Kufor-Rakeb syndrome
  • kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
  • late infantile CACH syndrome
  • late infantile neuronal ceroid lipofuscinosis 1
  • late infantile neuronal ceroid lipofuscinosis 10
  • late infantile neuronal ceroid lipofuscinosis 2
  • late infantile neuronal ceroid lipofuscinosis 5
  • late infantile neuronal ceroid lipofuscinosis 6
  • late infantile neuronal ceroid lipofuscinosis 8
  • late-infantile/juvenile Krabbe disease
  • lateral sclerosis
  • Leber hereditary optic neuropathy
  • Leber optic atrophy and dystonia
  • leukodystrophy
  • leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy
  • leukodystrophy, childhood-onset, remitting
  • leukodystrophy, demyelinating, adult-onset
  • leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical
  • leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical
  • leukodystrophy, hypomyelinating, 10
  • leukodystrophy, hypomyelinating, 11
  • leukodystrophy, hypomyelinating, 12
  • leukodystrophy, hypomyelinating, 13
  • leukodystrophy, hypomyelinating, 14
  • leukodystrophy, hypomyelinating, 15
  • leukodystrophy, hypomyelinating, 16
  • leukodystrophy, hypomyelinating, 17
  • leukodystrophy, hypomyelinating, 18
  • leukodystrophy, hypomyelinating, 19, transient infantile
  • leukodystrophy, hypomyelinating, 2
  • leukodystrophy, hypomyelinating, 20
  • leukodystrophy, hypomyelinating, 21
  • leukodystrophy, hypomyelinating, 22
  • leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
  • leukodystrophy, hypomyelinating, 24
  • leukodystrophy, hypomyelinating, 25
  • leukodystrophy, hypomyelinating, 26, with chondrodysplasia
  • leukodystrophy, hypomyelinating, 27
  • leukodystrophy, hypomyelinating, 28
  • leukodystrophy, hypomyelinating, 3
  • leukodystrophy, hypomyelinating, 4
  • leukodystrophy, hypomyelinating, 5
  • leukodystrophy, hypomyelinating, 6
  • leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
  • leukodystrophy, hypomyelinating, 9
  • leukoencephalopathy with bilateral anterior temporal lobe cysts
  • leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
  • leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • leukoencephalopathy with vanishing white matter
  • leukoencephalopathy with vanishing white matter 1
  • leukoencephalopathy with vanishing white matter 2
  • leukoencephalopathy with vanishing white matter 3
  • leukoencephalopathy with vanishing white matter 4
  • leukoencephalopathy with vanishing white matter 5
  • leukoencephalopathy without lacunae, adult-onset
  • leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • leukoencephalopathy, diffuse hereditary, with spheroids 1
  • leukoencephalopathy, hereditary diffuse, with spheroids 2
  • leukoencephalopathy, porphyria-related
  • leukoencephalopathy, progressive, with ovarian failure
  • Lichtenstein-Knorr syndrome
  • lower motor neuron syndrome with late-adult onset
  • Machado-Joseph disease
  • Machado-Joseph disease type 1
  • Machado-Joseph disease type 2
  • Machado-Joseph disease type 3
  • Machado-Joseph disease type 4
  • macrocephaly-spastic paraplegia-dysmorphism syndrome
  • Marinesco-Sjogren syndrome
  • MASA syndrome
  • mast syndrome
  • maternally-inherited spastic paraplegia
  • megalencephalic leukoencephalopathy with subcortical cysts
  • megalencephalic leukoencephalopathy with subcortical cysts 1
  • megalencephalic leukoencephalopathy with subcortical cysts 2A
  • megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
  • metachromatic leukodystrophy
  • metachromatic leukodystrophy due to saposin B deficiency
  • metachromatic leukodystrophy, adult form
  • metachromatic leukodystrophy, juvenile form
  • metachromatic leukodystrophy, late infantile form
  • microphthalmia-brain atrophy syndrome
  • mild Canavan disease
  • mitochondrial DNA depletion syndrome 4a
  • mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
  • motor neuron disease with dementia and ophthalmoplegia
  • multiple mitochondrial dysfunctions syndrome 4
  • myoclonic cerebellar dyssynergia
  • myopathy, myofibrillar, 13, with rimmed vacuoles
  • NAD(P)HX dehydratase deficiency
  • neuroacanthocytosis
  • neurodegeneration and seizures due to copper transport defect
  • neurodegeneration with ataxia and late-onset optic atrophy
  • neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • neurodegeneration with brain iron accumulation
  • neurodegeneration with brain iron accumulation 2A
  • neurodegeneration with brain iron accumulation 2B
  • neurodegeneration with brain iron accumulation 4
  • neurodegeneration with brain iron accumulation 5
  • neurodegeneration with brain iron accumulation 6
  • neurodegeneration with brain iron accumulation 7
  • neurodegeneration with brain iron accumulation 8
  • neurodegeneration with brain iron accumulation 9
  • neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
  • neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
  • neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
  • neurodegeneration, childhood-onset, with cerebellar atrophy
  • neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
  • neurodegeneration, childhood-onset, with progressive microcephaly
  • neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
  • neurodegeneration, infantile-onset, biotin-responsive
  • neurodegenerative disorder with cerebellar and caudate atrophy
  • neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment
  • neurodegenerative syndrome due to cerebral folate transport deficiency
  • neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
  • neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
  • neuroferritinopathy
  • neurogenic scapuloperoneal syndrome, Kaeser type
  • neuronal ceroid lipofuscinosis
  • neuronal ceroid lipofuscinosis 1
  • neuronal ceroid lipofuscinosis 10
  • neuronal ceroid lipofuscinosis 11
  • neuronal ceroid lipofuscinosis 13
  • neuronal ceroid lipofuscinosis 15
  • neuronal ceroid lipofuscinosis 2
  • neuronal ceroid lipofuscinosis 3
  • neuronal ceroid lipofuscinosis 5
  • neuronal ceroid lipofuscinosis 7
  • neuronal ceroid lipofuscinosis 8
  • neuronal ceroid lipofuscinosis 8 northern epilepsy variant
  • neuronal ceroid lipofuscinosis 9
  • neuronal intranuclear inclusion disease
  • neuronopathy, distal hereditary motor, autosomal dominant
  • neuronopathy, distal hereditary motor, autosomal dominant 1
  • neuronopathy, distal hereditary motor, autosomal dominant 10
  • neuronopathy, distal hereditary motor, autosomal dominant 11
  • neuronopathy, distal hereditary motor, autosomal dominant 15
  • neuronopathy, distal hereditary motor, autosomal dominant 8
  • neuronopathy, distal hereditary motor, autosomal recessive
  • neuronopathy, distal hereditary motor, autosomal recessive 10
  • neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
  • neuronopathy, distal hereditary motor, autosomal recessive 3
  • neuronopathy, distal hereditary motor, autosomal recessive 4
  • neuronopathy, distal hereditary motor, autosomal recessive 5
  • neuronopathy, distal hereditary motor, autosomal recessive 7
  • neuronopathy, distal hereditary motor, autosomal recessive 8
  • neuronopathy, distal hereditary motor, autosomal recessive 9
  • neuronopathy, distal hereditary motor, type 2A
  • neuronopathy, distal hereditary motor, type 2B
  • neuronopathy, distal hereditary motor, type 2C
  • neuronopathy, distal hereditary motor, type 2D
  • neuronopathy, distal hereditary motor, type 5
  • neuronopathy, distal hereditary motor, type 5A
  • neuronopathy, distal hereditary motor, type 5B
  • neuronopathy, distal hereditary motor, type 5C
  • neuronopathy, distal hereditary motor, type 7A
  • neuronopathy, distal hereditary motor, type 7B
  • neuronopathy, distal hereditary motor, type 9
  • non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
  • non-Zellweger spectrum disorder
  • null syndrome
  • odontoleukodystrophy
  • optic atrophy 10 with or without ataxia, intellectual disability, and seizures
  • optic atrophy 11
  • optic atrophy 12
  • optic atrophy 13 with retinal and foveal abnormalities
  • optic atrophy 14
  • optic atrophy 15
  • optic atrophy 16
  • optic atrophy 2
  • optic atrophy 3
  • optic atrophy 4
  • optic atrophy 5
  • optic atrophy 6
  • optic atrophy 8
  • optic atrophy 9
  • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
  • optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
  • osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
  • pantothenate kinase-associated neurodegeneration
  • parkinsonism due to ATP13A2 deficiency
  • PEHO syndrome
  • Pelizaeus-Merzbacher disease in female carriers
  • Pelizaeus-Merzbacher disease, classic form
  • Pelizaeus-Merzbacher disease, connatal form
  • Pelizaeus-Merzbacher disease, transitional form
  • Pelizaeus-Merzbacher spectrum disorder
  • Pelizaeus-Merzbacher-like disease
  • peroxisome biogenesis disorder
  • peroxisome biogenesis disorder 10A (Zellweger)
  • peroxisome biogenesis disorder 10B
  • peroxisome biogenesis disorder 11A (Zellweger)
  • peroxisome biogenesis disorder 11B
  • peroxisome biogenesis disorder 12A (Zellweger)
  • peroxisome biogenesis disorder 13A (Zellweger)
  • peroxisome biogenesis disorder 14B
  • peroxisome biogenesis disorder 1A (Zellweger)
  • peroxisome biogenesis disorder 1B
  • peroxisome biogenesis disorder 2A (Zellweger)
  • peroxisome biogenesis disorder 2B
  • peroxisome biogenesis disorder 3A (Zellweger)
  • peroxisome biogenesis disorder 4A (Zellweger)
  • peroxisome biogenesis disorder 4B
  • peroxisome biogenesis disorder 5A (Zellweger)
  • peroxisome biogenesis disorder 5B
  • peroxisome biogenesis disorder 6A (Zellweger)
  • peroxisome biogenesis disorder 6B
  • peroxisome biogenesis disorder 7A (Zellweger)
  • peroxisome biogenesis disorder 7B
  • peroxisome biogenesis disorder 8A (Zellweger)
  • peroxisome biogenesis disorder 8B
  • peroxisome biogenesis disorder 9B
  • peroxisome biogenesis disorder due to PEX1 defect
  • peroxisome biogenesis disorder due to PEX10 defect
  • peroxisome biogenesis disorder due to PEX11B defect
  • peroxisome biogenesis disorder due to PEX12 defect
  • peroxisome biogenesis disorder due to PEX13 defect
  • peroxisome biogenesis disorder due to PEX14 defect
  • peroxisome biogenesis disorder due to PEX16 defect
  • peroxisome biogenesis disorder due to PEX19 defect
  • peroxisome biogenesis disorder due to PEX2 defect
  • peroxisome biogenesis disorder due to PEX26 defect
  • peroxisome biogenesis disorder due to PEX3 defect
  • peroxisome biogenesis disorder due to PEX5 defect
  • peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
  • peroxisome biogenesis disorder due to PEX6 defect
  • peroxisome biogenesis disorder due to PEX7 defect
  • peroxisome biogenesis disorder type 3B
  • peroxisome biogenesis disorder, complementation group 2
  • peroxisome biogenesis disorder, complementation group 3
  • peroxisome biogenesis disorder, complementation group K
  • Perry syndrome
  • Pick disease
  • PLA2G6-associated neurodegeneration
  • PNPLA6-related spastic paraplegia with or without ataxia
  • POLR-related leukodystrophy
  • POLR3-related leukodystrophy
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
  • pontocerebellar hypoplasia type 1
  • pontocerebellar hypoplasia type 1A
  • pontocerebellar hypoplasia type 1B
  • pontocerebellar hypoplasia type 2
  • pontocerebellar hypoplasia type 2A
  • pontocerebellar hypoplasia type 2B
  • pontocerebellar hypoplasia type 2C
  • pontocerebellar hypoplasia type 2D
  • pontocerebellar hypoplasia, type 1C
  • pontocerebellar hypoplasia, type 2F
  • posterior column ataxia-retinitis pigmentosa syndrome
  • posterior cortical atrophy
  • prenatal-onset spinal muscular atrophy with congenital bone fractures
  • primary lateral sclerosis, adult, 1
  • PRKAR1B-related neurodegenerative dementia with intermediate filaments
  • progressive bulbar palsy
  • progressive bulbar palsy of childhood
  • progressive cavitating leukoencephalopathy
  • progressive encephalopathy with leukodystrophy due to DECR deficiency
  • progressive myoclonic epilepsy type 3
  • progressive non-fluent aphasia
  • progressive supranuclear palsy
  • progressive supranuclear palsy-corticobasal syndrome
  • progressive supranuclear palsy-parkinsonism syndrome
  • progressive supranuclear palsy-progressive non-fluent aphasia syndrome
  • progressive supranuclear palsy-pure akinesia with gait freezing syndrome
  • protracted juvenile neuronal ceroid lipofuscinosis 3
  • proximal spinal muscular atrophy
  • psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • pure hereditary spastic paraplegia
  • pure or complex hereditary spastic paraplegia
  • radiation sensitivity/chromosome instability syndrome, autosomal dominant
  • ravine syndrome
  • recessive mitochondrial ataxia syndrome
  • recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • rhizomelic chondrodysplasia punctata type 1
  • rhizomelic chondrodysplasia punctata type 5
  • riboflavin transporter deficiency
  • ribose-5-P isomerase deficiency
  • RIDDLE syndrome
  • RNASEH2B-related hereditary spastic paraplegia
  • Sandhoff disease
  • Sandhoff disease, adult form
  • Sandhoff disease, infantile form
  • Sandhoff disease, juvenile form
  • scapuloperoneal spinal muscular atrophy, autosomal dominant
  • scapuloperoneal spinal muscular atrophy, autosomal recessive
  • semantic dementia
  • severe Canavan disease
  • severe neurodegenerative syndrome with lipodystrophy
  • short-rib thoracic dysplasia 14 with polydactyly
  • Sjogren-Larsson syndrome
  • spastic ataxia 2
  • spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
  • spastic paraplegia 18a, autosomal dominant
  • spastic paraplegia 18b, autosomal recessive
  • spastic paraplegia 30A, autosomal dominant
  • spastic paraplegia 30B, autosomal recessive
  • spastic paraplegia 72b, autosomal recessive
  • spastic paraplegia 79A, autosomal dominant, with ataxia
  • spastic paraplegia 80, autosomal dominant
  • spastic paraplegia 81, autosomal recessive
  • spastic paraplegia 82, autosomal recessive
  • spastic paraplegia 83, autosomal recessive
  • spastic paraplegia 84, autosomal recessive
  • spastic paraplegia 85, autosomal recessive
  • spastic paraplegia 86, autosomal recessive
  • spastic paraplegia 87, autosomal recessive
  • spastic paraplegia 88, autosomal dominant
  • spastic paraplegia 89, autosomal recessive
  • spastic paraplegia 90A, autosomal dominant
  • spastic paraplegia 90B, autosomal recessive
  • spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
  • spastic paraplegia 92, autosomal recessive
  • spastic paraplegia 93, autosomal recessive
  • spastic paraplegia-epilepsy-intellectual disability syndrome
  • spastic paraplegia-facial-cutaneous lesions syndrome
  • spastic paraplegia-glaucoma-intellectual disability syndrome
  • spastic paraplegia-nephritis-deafness syndrome
  • spastic paraplegia-neuropathy-poikiloderma syndrome
  • spastic paraplegia-Paget disease of bone syndrome
  • spastic paraplegia-precocious puberty syndrome
  • spastic paraplegia-severe developmental delay-epilepsy syndrome
  • spastic paraplegia, intellectual disability, nystagmus, and obesity
  • spastic paraplegia, optic atropy, and neuropathy
  • spinal atrophy-ophthalmoplegia-pyramidal syndrome
  • spinal muscular atrophy
  • spinal muscular atrophy type 0
  • spinal muscular atrophy with congenital bone fractures 1
  • spinal muscular atrophy with congenital bone fractures 2
  • spinal muscular atrophy with respiratory distress type 2
  • spinal muscular atrophy-progressive myoclonic epilepsy syndrome
  • spinal muscular atrophy, distal, autosomal recessive, 6
  • spinal muscular atrophy, facioscapulohumeral type
  • spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
  • spinal muscular atrophy, Ryukyuan type
  • spinal muscular atrophy, segmental
  • spinal muscular atrophy, type 1
  • spinal muscular atrophy, type II
  • spinal muscular atrophy, type III
  • spinal muscular atrophy, type IV
  • spinocerebellar ataxia 27A
  • spinocerebellar ataxia 27B, late-onset
  • spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
  • spinocerebellar ataxia 43
  • spinocerebellar ataxia 44
  • spinocerebellar ataxia 45
  • spinocerebellar ataxia 46
  • spinocerebellar ataxia 47
  • spinocerebellar ataxia 48
  • spinocerebellar ataxia 49
  • spinocerebellar ataxia 50
  • spinocerebellar ataxia 51
  • spinocerebellar ataxia 52
  • spinocerebellar ataxia 7
  • spinocerebellar ataxia 9
  • spinocerebellar ataxia type 1
  • spinocerebellar ataxia type 10
  • spinocerebellar ataxia type 11
  • spinocerebellar ataxia type 12
  • spinocerebellar ataxia type 13
  • spinocerebellar ataxia type 14
  • spinocerebellar ataxia type 15/16
  • spinocerebellar ataxia type 17
  • spinocerebellar ataxia type 18
  • spinocerebellar ataxia type 19/22
  • spinocerebellar ataxia type 2
  • spinocerebellar ataxia type 20
  • spinocerebellar ataxia type 21
  • spinocerebellar ataxia type 23
  • spinocerebellar ataxia type 25
  • spinocerebellar ataxia type 26
  • spinocerebellar ataxia type 27
  • spinocerebellar ataxia type 28
  • spinocerebellar ataxia type 29
  • spinocerebellar ataxia type 30
  • spinocerebellar ataxia type 31
  • spinocerebellar ataxia type 32
  • spinocerebellar ataxia type 34
  • spinocerebellar ataxia type 35
  • spinocerebellar ataxia type 36
  • spinocerebellar ataxia type 37
  • spinocerebellar ataxia type 38
  • spinocerebellar ataxia type 4
  • spinocerebellar ataxia type 40
  • spinocerebellar ataxia type 41
  • spinocerebellar ataxia type 42
  • spinocerebellar ataxia type 5
  • spinocerebellar ataxia type 6
  • spinocerebellar ataxia type 8
  • spinocerebellar ataxia, autosomal recessive 22
  • spinocerebellar ataxia, autosomal recessive 23
  • spinocerebellar ataxia, autosomal recessive 24
  • spinocerebellar ataxia, autosomal recessive 25
  • spinocerebellar ataxia, autosomal recessive 26
  • spinocerebellar ataxia, autosomal recessive 27
  • spinocerebellar ataxia, autosomal recessive 28
  • spinocerebellar ataxia, autosomal recessive 29
  • spinocerebellar ataxia, autosomal recessive 30
  • spinocerebellar ataxia, autosomal recessive 31
  • spinocerebellar ataxia, autosomal recessive 32
  • spinocerebellar ataxia, autosomal recessive 33
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
  • spinocerebellar ataxia, X-linked 2
  • spinocerebellar degeneration with slow eye movements
  • sterol carrier protein 2 deficiency
  • striatal degeneration, autosomal dominant
  • striatal degeneration, autosomal dominant 2
  • striatonigral degeneration
  • striatonigral degeneration, childhood-onset
  • striatonigral degeneration, infantile, mitochondrial
  • supranuclear palsy, progressive, 1
  • supranuclear palsy, progressive, 2
  • supranuclear palsy, progressive, 3
  • Tay-Sachs disease
  • Tay-Sachs disease AB variant
  • Tay-Sachs disease, B variant, adult form
  • Tay-Sachs disease, b variant, infantile form
  • Tay-Sachs disease, b variant, juvenile form
  • Tay-Sachs disease, B1 variant
  • tremor-ataxia-central hypomyelination syndrome
  • TREX1-related autosomal dominant Aicardi-Goutieres syndrome
  • trichothiodystrophy 8, nonphotosensitive
  • Troyer syndrome
  • TUBB4A-related neurologic disorder
  • unknown leukodystrophy
  • VPS13A-related neurodegenerative disease
  • Westphal disease
  • Woodhouse-Sakati syndrome
  • X-linked cerebellar ataxia
  • X-linked cerebral adrenoleukodystrophy
  • X-linked distal spinal muscular atrophy type 3
  • X-linked intellectual disability-ataxia-apraxia syndrome
  • X-linked neurodegenerative syndrome, Bertini type
  • X-linked neurodegenerative syndrome, Hamel type
  • X-linked non progressive cerebellar ataxia
  • X-linked progressive cerebellar ataxia
  • X-linked sideroblastic anemia with ataxia
  • X-linked spinocerebellar ataxia type 3
  • X-linked spinocerebellar ataxia type 4
  • XK-related neurodegenerative disease
  • Zellweger spectrum disorders
MONDO:0024237Orphanet 183500MedGen 1825988Kilder: [5][1][3][6]

Hvorfor helgenomsekventering

Disse sygdomme har forskellige arvemønstre, så det specifikke gen i familien former den vejledning, der gives. Helgenomsekventering undersøger alle ni udvalgte gener i én test.

Forskellige gener, forskellige mønstre

Ændringer i KIF5A og TUBB4A er dominante, så hvert barn af en ramt forælder har en chance på 1 ud af 2 for at arve ændringen, mens de fleste andre gener i denne rapport virker recessivt. Genetisk rådgivning forklarer, hvilket mønster der gælder for en familie.

Et negativt resultat er ikke ensbetydende med en endelig konklusion

Denne rapport dækker kun udvalgte gener, og mange andre gener kan give arvelige neurodegenerative sygdomme. Symptomer som spasticitet og dystoni behandles, efterhånden som de opstår, ofte med fysioterapi og medicin.

Begrænsninger

  • Denne rapport dækker kun udvalgte gener. Mange andre gener forårsager arvelige neurodegenerative sygdomme, så et negativt resultat udelukker ikke en arvelig neurodegenerativ sygdom.

Referencer

  1. Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L et al., 2022. Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. Brain : a journal of neurology
  2. Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N et al., 2023. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences
  3. Amyotrophic lateral sclerosis. MedlinePlus Genetics
  4. Gavazzi F, Pizzino A, Bally JF, Fraser J, Simons C, Wolf NI et al., 2016. TUBB4A-Related Neurologic Disorders. GeneReviews
  5. Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R et al., 2019. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron
  6. Shi Y, Lin S, Staats KA, Li Y, Chang WH, Hung ST et al., 2019. Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. Nature medicine
  7. Bramswig NC, Zaki MS, 2017. UNC80 Deficiency. GeneReviews
  8. Baltanás FC, Berciano MT, Santos E, Lafarga M, 2021. The Childhood-Onset Neurodegeneration with Cerebellar Atrophy (CONDCA) Disease Caused by AGTPBP1 Gene Mutations: The Purkinje Cell Degeneration Mouse as an Animal Model for the Study of this Human Disease. Biomedicines
  9. Lalonde R, Strazielle C, 2021. The AGTPBP1 gene in neurobiology. Gene
  10. Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H et al., 2017. TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. Journal of human genetics
  11. Shen YW, Weng ZF, He W, Chen YH, Wang QH, Zou LP et al., 2021. [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature]. Zhonghua er ke za zhi = Chinese journal of pediatrics
  12. Chan DL, Rudinger-Thirion J, Frugier M, Riley LG, Ho G, Kothur K et al., 2022. A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders. Brain & development
  13. Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M et al., 2017. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain : a journal of neurology
  14. Ge J, Li H, Liang X, Zhou B, 2024. SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development. Cellular and molecular life sciences : CMLS
  15. Steel DBD, Danti FR, Abunada M, Kamien B, Malhotra S, Topf M et al., 2023. Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants. Neurology
  16. Kizhakkedath P, AlDhaheri W, Baydoun I, Tabouni M, John A, Almansoori TM et al., 2023. Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum. Frontiers in genetics
  17. Orrell RW, 2005. ALS2-Related Disorder. GeneReviews
  18. ALS2 gene. MedlinePlus Genetics
  19. Infantile-onset ascending hereditary spastic paralysis. MedlinePlus Genetics
  20. Juvenile primary lateral sclerosis. MedlinePlus Genetics

Andre neurologiske conditions

Alle betingelser →

Én test. Svar for hele livet.

Ét sæt, sendt til din dør. Dit fulde genom sekventeret efter den kliniske standard, der bruges til diagnostiske beslutninger. Lægeklare rapporter leveres til din Genome Manager om 6–8 uger — permanente og opdateret, efterhånden som videnskaben udvikler sig.

Fra 449 $

Gratis forsendelse · Resultater på 6–8 uger

Premium tilføjer 99 $ pr. kit for det første år.

Bestil med Premium