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/.
Related Courses
Latest Content
Editor's Picks: Selected Papers
Useful reference papers about rare movement disorders, curated by the MDS Website Editorial Board.
Ataxia‐telangiectasia: A review of movement disorders clinical features and genotype
Jun 2023The clinical features underlying immunology and treatment of autoantibody‐mediated movement disorders
Jun 2023Systematic review of movement disorders and oculomotor abnormalities in Whipple s disease
Jun 2023
MDS Groups
Society groups working on issues related to rare movement disorders.