Machado-Joseph disease
|
(SCA3)
Prevalence: 1 to 2/100,000; but the prevalence is higher in Azores, Portugal, Germany and The Netherlands. Best-known form of autosomal dominant cerebellar ataxia type 1. Autosomal dominant transmission with complete penetrance and anticipation phenomenon: the disease is due to an abnormal expansion of CAG trinucleotides in the ATXN3 gene (14q21). Disease occurs if there is more than 64 repetitions of CAG.
There are 3 forms of this neurodegenerative condition with ataxia and progressive external ophthalmoplegia associated with other neurological problems:
- 1: onset in adolescence; ataxia, ophthalmoplegia, spasticity and tendinous hyperreflexia as well as dystonia and movement disorders
- 2: onset in adulthood; ataxia, dystonia, spasticity
- 3: onset after 40 years; ophthalmoplegia and signs of spinal anterior horn neurons involvement: fasciculations, muscle atrophy and weakness
Anesthetic implications:
spasticity, dystonic movements
References :
Updated: November 2016