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Condition report · Neurological
Neurological movement disorders encompassing sustained or intermittent muscle contractions (dystonia), delayed muscle relaxation (myotonia), and sudden, involuntary movement episodes (paroxysmal dyskinesia).
A condition report looks for rare variants known to cause the conditions it covers.
A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia).
Genes analysed
Also known as
myotonia congenita
Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.
Genes analysed
Also known as
familial dystonia; hereditary dystonic disorder; rare genetic dystonia; rare genetic dystonic disorder
Specific forms also covered
An autosomal dominant dopa-responsive dystonia in which the cause of the disease is a variation in the GCH1 gene.
Autosomal dominant
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.
Autosomal recessive
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.
Autosomal dominant
Autosomal dominant focal dystonia, DYT25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia.
Autosomal dominant
Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.
Autosomal recessive
Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene.
Autosomal dominant
Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.
Autosomal dominant
Autosomal recessive
Autosomal recessive
Autosomal dominant
Autosomal dominant
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).
Autosomal dominant
A skeletal-muscle sodium channel (SCN4A) disorder causing muscle stiffness that worsens with cold and repeated activity, sometimes followed by weakness.
Genes analysed
Also known as
Eulenburg disease; myotonia congenita intermittens; PMC; Von Eulenburg paramyotonia congenita
Autosomal dominant
An SCN4A-related myotonia in which muscle stiffness is made worse by potassium, including myotonia fluctuans and myotonia permanens.
Genes analysed
Also known as
K+-aggravated myotonia; myotonia congenita, atypical, acetazolamide-responsive; PAM
Specific forms also covered
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 is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).
Autosomal dominant
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.
Genes analysed
Autosomal dominant
A spectrum including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood and CAPOS syndrome, caused by variants in ATP1A3.
Genes analysed
Also known as
ATP1A3 neurological disorder; neurological disorder caused by mutation in ATP1A3
Specific forms also covered
Autosomal dominant
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.
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