Rare Movement Disorders

Rare Movement Disorders (RMD) inosanganisira nhamba huru yezvisingawanzo uye zvinoremadza kusagadzikana nehupamhi phenotypic spectrum inowanzobuda muhudiki.

Kune boka guru rezvirwere zvisingawanzoitiki zvemajini. Asi kana ukazvitora zvese pamwe chete, hazviwanzoitiki. Nekuti mumakiriniki edu ese, zvinoumba huwandu hwakakura, kunyangwe zvirwere zvega zvega zvingasawanzoitika.

— Shekeeb Mohammad, MB BS, FRACP, PhD, Australia

Rare Movement Disorders Inosanganisira*:

Abetalipoproteinemia (Bassen-Kornzweig)
Aceruloplasminemia
Acetazolamide-inopindura periodic ataxia (ARPA)
ADCY5 kuchinja
Alternating hemiplegia yehuduku
Inonhuhwirira amino acid decarboxylase kushomeka
ataxia telangiectasia
Ataxia ine oculomotor apraxia mhando 1 uye 2
Ataxia ine vitamin E kushomeka
Autosomal dominant hereditary ataxias
Belly dancer's dyskinesia
Benign hereditary chorea
Bilateral gluteal dyskinesia
Bilateral hemifacial spasm
Biotinidase kushomeka
Biotin-thiamine inopindura basal ganglia chirwere
Bobble-head doll syndrome
C9orf72 kuwedzera
Cerebral creatine kushomeka
Cerebral folate kushomeka
Cerebrotendinous xanthomatosis
Chorea-acanthocytosis
Cobalamin kushomeka
CoEnzyme Q10 kushomeka
Dentatorubropallidoluysian atrophy
Episodic ataxia mhando 2
Episodic ataxia mhando 2

Chirwere cheFahr / mhuri yebasal ganglia calcification
Familial prion chirwere (chirwere cheHuntington-se1)
Fickler-Winkler mhando OPCA
Fragile X-inobatanidza kudedera/ataxia syndrome (FXTAS)
Friedreich's ataxia
Chirwere cheGaucher (neurologic subtype 3)
GLUT1 kushomeka
GLUT1 kushomeka
Glutaric aciduria mhando 1
GPR88 kuchinja
Hemimaticatory spasm
Hereditary epileptic-dyskinetic encephalopathies
Hereditary inokosha chin myoclonus
Homocystinuria
Hyperekplexia
Hypobetalipoproteinemia mhando I uye II
Kufor Rakeb syndrome (chirwere cheParkinson 9)
Leigh syndrome uye Leigh-like syndromes
Chirwere cheLesch-Nyhan
Maple syrup weti chirwere
McLeod syndrome
Methylmalonic aciduria
Molybdenum cofactor kushomeka
Neruoacanthocytosis syndromes
Neuroferritinopathy
Niemann Pick mhando C

Matambudziko eOcology
OPA3-yakabatana 3-methylglutaconic aciduria (Costeff syndrome)
Makumbo anorwadza uye kufamba kwezvigunwe syndrome
Pantothenate kinase-yakabatana neurodegeneration
Paroxysmal exercise-induced dyskinesia
Paroxysmal kinesiogenic choreoathetosis
Paroxysmal kinesigenic dyskinesia
Paroxysmal isiri kinesigenic dyskinesia
PDE10A shanduko
Pelizaeus-Merzbacher chirwere
Phenylketonuria
Pontocerebellar hypoplasia
Yekutanga mhuri yemhuri calcification
Propionic acidemia
Pseudochoreoathetosis
Pyruvate carboxylase kushomeka
Pyruvate dehydrogenase complex deficiency
Tsuro chirwere
Refsum chirwere
Spastic ataxia type 2 (SPG58)
Sulfite oxidase kushomeka
Superior oblique myokymia
Tuberous sclerosis
Wilson chirwere
Xeroderma pigmentosum

Rondedzero iyi haina zvese zvinobatanidzwa, asi ine zvimwe zvezvirwere zvisingawanzo kutaurwa nezvazvo. Kuti uwane rumwe ruzivo ona: https://rarediseases.org/rare-diseases/ kana https://rarediseases.info.nih.gov/.