What does MJD mean in Physiology?

This page is about the meanings of the acronym/abbreviation/shorthand MJD in the Medical field in general and in the Physiology terminology in particular.

Machado-Joseph Disease

Medical » Physiology

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Definition

What does MJD mean?

Machado-Joseph Disease
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)

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"MJD." Abbreviations.com. STANDS4 LLC, 2019. Web. 22 Oct. 2019. <https://www.abbreviations.com/term/149647>.

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