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Zpráva o onemocněních · Neurological

Dystonia, Myotonia and Paroxysmal Dyskinesia

Neurological movement disorders encompassing sustained or intermittent muscle contractions (dystonia), delayed muscle relaxation (myotonia), and sudden, involuntary movement episodes (paroxysmal dyskinesia).

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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Všech 21 onemocnění, která analyzujeme

Thomsen And Becker Disease

A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).

Analyzované geny

Známé také jako

myotonia congenita

Zahrnuje 2 příbuzných podtypů ↓
  • myotonia congenita, autosomal dominant
  • myotonia congenita, autosomal recessive
MONDO:0009710Orphanet 614

Inherited Dystonia

Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

Analyzované geny

Známé také jako

familial dystonia; hereditary dystonic disorder; rare genetic dystonia; rare genetic dystonic disorder

Zahrnuty jsou také specifické formy

  • Dystonia 5

    An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.

    GCH1

  • Dystonia 21

    Autozomálně dominantní

    Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.

  • Dystonia 16

    Autozomálně recesivní

    Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

    PRKRA

  • Dystonia 25

    Autozomálně dominantní

    Autosomal dominant focal dystonia, DYT25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.

    GNAL

  • Dystonia 23

    Autozomálně dominantní

    Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.

  • Dystonia 27

    Autozomálně recesivní

    Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.

    COL6A3

  • Dystonia 24

    Autozomálně dominantní

    Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.

    ANO3

  • Dystonia 30

    Autozomálně dominantní

    VPS16

  • Dystonia 31

    Autozomálně recesivní

  • Dystonia 32

    Autozomálně recesivní

  • Dystonia 33

    Autozomálně dominantní

  • Paroxysmal Dyskinesia

    Autozomálně dominantní

    Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).

    KCNJ10, PNKD, PRRT2, SLC2A1, TMEM151A

Zahrnuje 75 příbuzných podtypů ↓
  • adult-onset segmental dystonia
  • ataxia - oculomotor apraxia type 4
  • ataxia - telangiectasia variant
  • autosomal dominant dopa-responsive dystonia
  • benign paroxysmal torticollis of infancy
  • blepharospasm-oromandibular dystonia syndrome
  • brain dopamine-serotonin vesicular transport disease
  • childhood onset GLUT1 deficiency syndrome 2
  • classic dopamine transporter deficiency syndrome
  • combined cervical dystonia
  • combined dystonia
  • developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
  • developmental malformations-deafness-dystonia syndrome
  • dopa-responsive dystonia due to sepiapterin reductase deficiency
  • dystonia 12
  • dystonia 16
  • dystonia 21
  • dystonia 22, adult-onset
  • dystonia 22, juvenile-onset
  • dystonia 23
  • dystonia 24
  • dystonia 25
  • dystonia 27
  • dystonia 28, childhood-onset
  • dystonia 30
  • dystonia 31
  • dystonia 32
  • dystonia 33
  • dystonia 34, myoclonic
  • dystonia 35, childhood-onset
  • dystonia 37, early-onset, with striatal lesions
  • dystonia 5
  • dystonia 9
  • dystonia-aphonia syndrome
  • dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
  • dystonia, focal, task-specific
  • early-onset generalized dystonia
  • early-onset generalized limb-onset dystonia
  • ECHS1-related paroxysmal dyskinesia
  • episodic kinesigenic dyskinesia
  • episodic kinesigenic dyskinesia 1
  • episodic kinesigenic dyskinesia 2
  • episodic kinesigenic dyskinesia 3
  • familial idiopathic torsion dystonia
  • focal, segmental or multifocal dystonia
  • generalized dystonia
  • infantile convulsions and choreoathetosis
  • infantile epileptic-dyskinetic encephalopathy
  • infantile-onset generalized dyskinesia with orofacial involvement
  • intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
  • isolated dystonia
  • lymphatic malformation 5
  • myoclonic dystonia 11
  • myoclonic dystonia 15
  • myoclonic dystonia 26
  • myoclonus-dystonia syndrome
  • oromandibular dystonia
  • parkinsonism-dystonia 3, childhood-onset
  • parkinsonism-dystonia, infantile
  • paroxysmal dyskinesia
  • paroxysmal dystonia
  • paroxysmal nonkinesigenic dyskinesia
  • paroxysmal nonkinesigenic dyskinesia 1
  • paroxysmal nonkinesigenic dyskinesia 2
  • severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
  • striatonigral degeneration, childhood-onset
  • torsion dystonia 13
  • torsion dystonia 17
  • torsion dystonia 2
  • torsion dystonia 4
  • torsion dystonia 6
  • torsion dystonia 7
  • torsion dystonia with onset in infancy
  • Woodhouse-Sakati syndrome
  • X-linked dystonia-parkinsonism
MONDO:0044807Orphanet 391799MedGen 1842468

Paramyotonia Congenita

Autozomálně dominantní

A skeletal-muscle sodium channel (SCN4A) disorder causing muscle stiffness that worsens with cold and repeated activity, sometimes followed by weakness.

Analyzované geny

Známé také jako

Eulenburg disease; myotonia congenita intermittens; PMC; Von Eulenburg paramyotonia congenita

MONDO:0008195OMIM 168300Orphanet 684MedGen 113142

Potassium-Aggravated Myotonia

Autozomálně dominantní

An SCN4A-related myotonia in which muscle stiffness is made worse by potassium, including myotonia fluctuans and myotonia permanens.

Analyzované geny

Známé také jako

K+-aggravated myotonia; myotonia congenita, atypical, acetazolamide-responsive; PAM

Zahrnuty jsou také specifické formy

  • Myotonia Fluctuans

    Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.

  • Myotonia Permanens

    Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).

Zahrnuje 3 příbuzných podtypů ↓
  • acetazolamide-responsive myotonia
  • myotonia fluctuans
  • myotonia permanens
MONDO:0018959OMIM 608390Orphanet 612MedGen 444151

PRRT2-associated paroxysmal movement disorder

Autozomálně dominantní

Brief attacks of involuntary movement triggered by sudden movement (paroxysmal kinesigenic dyskinesia), sometimes with infantile seizures; usually responds well to low-dose anti-seizure medicine.

Analyzované geny

Zahrnuje 3 příbuzných podtypů ↓
  • episodic kinesigenic dyskinesia 1
  • infantile convulsions and choreoathetosis
  • seizures, benign familial infantile, 2
MONDO:0100556

ATP1A3-related neurological disorder

Autozomálně dominantní

A spectrum including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood and CAPOS syndrome, caused by variants in ATP1A3.

Analyzované geny

Známé také jako

ATP1A3 neurological disorder; neurological disorder caused by mutation in ATP1A3

Zahrnuty jsou také specifické formy

  • Dystonia 12

    Autozomálně dominantní

    Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

    ATP1A3

Zahrnuje 4 příbuzných podtypů ↓
  • alternating hemiplegia of childhood 2
  • cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
  • developmental and epileptic encephalopathy 99
  • dystonia 12
MONDO:0700002

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