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Rare Movement Disorders

Rare Movement Disorders (RMD) comprise a large number of rare and disabling disorders with a wide phenotypic spectrum that often emerge in childhood.

Rare Movement Disorders Include*:

Abetalipoproteinemia (Bassen-Kornzweig)
Aceruloplasminemia
Acetazolamide-responsive periodic ataxia (ARPA)
ADCY5 mutation
Alternating hemiplegia of childhood
Aromatic amino acid decarboxylase deficiency
Ataxia telangiectasia
Ataxia with oculomotor apraxia types 1 and 2
Ataxia with vitamin E deficiency
Autosomal dominant hereditary ataxias
Belly dancer's dyskinesia
Benign hereditary chorea
Bilateral gluteal dyskinesia
Bilateral hemifacial spasm
Biotinidase deficiency
Biotin-thiamine responsive basal ganglia disease
Bobble-head doll syndrome
C9orf72 expansions
Cerebral creatine deficiency
Cerebral folate deficiency
Cerebrotendinous xanthomatosis
Chorea-acanthocytosis
Cobalamin deficiency
CoEnzyme Q10 deficiency
Dentatorubropallidoluysian atrophy
Episodic ataxia type 2
Episodic ataxia type 2

Fahr's disease/familial basal ganglia calcification
Familial prion disease (Huntington disease-like 1)
Fickler-Winkler type OPCA
Fragile X-associated tremor/ataxia syndrome (FXTAS)
Friedreich's ataxia
Gaucher disease (neurologic subtype 3)
GLUT1 deficiency
GLUT1 deficiency
Glutaric aciduria type 1
GPR88 mutation
Hemimasticatory spasm
Hereditary epileptic-dyskinetic encephalopathies
Hereditary essential chin myoclonus
Homocystinuria
Hyperekplexia
Hypobetalipoproteinemia types I and II
Kufor Rakeb syndrome (Parkinson's disease 9)
Leigh syndrome and Leigh-like syndromes
Lesch-Nyhan disease
Maple syrup urine disease
McLeod syndrome
Methylmalonic aciduria
Molybdenum cofactor deficiency
Neruoacanthocytosis syndromes
Neuroferritinopathy
Niemann Pick type C

Oculogyric crises
OPA3-related 3-methylglutaconic aciduria (Costeff syndrome)
Painful legs and moving toes syndrome
Pantothenate kinase-associated neurodegeneration
Paroxysmal exercise-induced dyskinesia
Paroxysmal kinesiogenic choreoathetosis
Paroxysmal kinesigenic dyskinesia
Paroxysmal non kinesigenic dyskinesia
PDE10A mutation
Pelizaeus-Merzbacher disease
Phenylketonuria
Pontocerebellar hypoplasia
Primary familial brain calcification
Propionic acidemia
Pseudochoreoathetosis
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase complex deficiency
Rabbit syndrome
Refsum disease
Spastic ataxia type 2 (SPG58)
Sulfite oxidase deficiency
Superior oblique myokymia
Tuberous sclerosis
Wilson disease
Xeroderma pigmentosum

This list is not all-inclusive, but contains some of the more commonly discussed rare disorders. For more information see: https://rarediseases.org/rare-diseases/ or https://rarediseases.info.nih.gov/.

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Rare Movement Disorders