Svensk definition
En dominant ärftlig ataxi som först beskrevs hos personer av azorisk och portugisisk härkomst, och senare även i Brasilien, Japan, Kina och Australien. Sjukdomen är klassad som en spinocerebellär ataxi (typ 3) och sätts i samband med en muation i MJD1-genen på kromosom 14. Kliniska särdrag omfattar fortskridande ataxi, dysartri, instabil kroppshållning, nystagmus, indragna ögonlock och ansiktsryckningar. Dystoni är ett framträdande drag hos yngre patienter (benämns typ I). Typ II uppvisar ataxi och ögonsymtom. Typ III kännetecknas av muskelatrofi och sensorimotorisk neuropati, och typ IV visar extrapyramidala symtom med sensorimotorisk neuropati.
Engelsk definition
A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Disease, Machado-Joseph — Machado Joseph Disease — Joseph Azorean Disease — Disease, Joseph Azorean — Joseph Disease — Disease, Joseph — Spinocerebellar Ataxia Type 3 — Striatonigral Degeneration, Autosomal Dominant — Autosomal Dominant Striatonigral Degeneration — Azorean Disease, Nervous System — Machado-Joseph Azorean Disease — Disease, Machado-Joseph Azorean — Machado Joseph Azorean Disease — Nervous System Azorean Disease — Spinocerebellar Ataxia-3 — Type 3 Spinocerebellar Ataxia — Azorean Disease (Machado-Joseph) — Azorean Disease (Machado Joseph) — Disease, Azorean (Machado-Joseph) — Spinocerebellar Atrophy Type 3 — Azorean Neurologic Disease — Disease, Azorean Neurologic — Neurologic Disease, Azorean — Nigrospinodentatal Degeneration — Degeneration, Nigrospinodentatal — Degenerations, Nigrospinodentatal — Nigrospinodentatal Degenerations — Spinocerebellar Ataxia 3 — 3s, Spinocerebellar Ataxia — Ataxia 3, Spinocerebellar — Ataxia 3s, Spinocerebellar — Spinocerebellar Ataxia 3s — Spinocerebellar Atrophy III — Atrophy III, Spinocerebellar — Atrophy IIIs, Spinocerebellar — III, Spinocerebellar Atrophy — Spinocerebellar Atrophy IIIs — Azorean Ataxia — Azorean Disease — Disease, Azorean — Machado-Joseph Disease Type IV — Machado Joseph Disease Type IV — Type IV Machado-Joseph Disease — Type IV Machado Joseph Disease — Machado-Joseph Disease Type III — Machado Joseph Disease Type III — Type III Machado-Joseph Disease — Type III Machado Joseph Disease — Machado-Joseph Disease Type I — Machado Joseph Disease Type I — Type I Machado-Joseph Disease — Type I Machado Joseph Disease — Machado-Joseph Disease Type II — Machado Joseph Disease Type II — Type II Machado-Joseph Disease — Type II Machado Joseph Disease