Thursday, October 09, 2014

Machado Joseph disease

aka MJD, spinocerebellar ataxia type 3


adult onset, autosomal dominant
UMN and LMN signs resembling ALS may include tongue fasciculations, dystonia, rigidity, progressive external opthalmoplegia, and peripheral neuropathy.

Due to CAG triplicate repeat on chromosome 14q32.1

Cramping is far more common than in PN or SMA but not ALS and is relieved almost completely by mexilitene, supporting notion that is due to sodium conductance.

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