While increased life expectancy could, in part, account for a higher incidence of dominant ataxias which have a later age of onset, this argument is not valid for recessive ataxias [4,12]. One possible explanation for the increase in incidence of genetically-based diseases, such as ataxias,...
In addition to the characteristic features of spinocerebellar ataxia, the heart may also be affected, and patients may experience a hypertrophic cardiomyopathy. Clinical onset of FRDA occurs in the first or second decade of life 69, 70, 71, 72. The disease is clinically characterized by cerebellar...
Dejerine‐Sottas syndrome, sometimes called progressive hypertrophic neuropathy, is a more severe form of peroneal muscular atrophy with presentation in infancy of progressive generalized muscle weakness, severe sensory loss, limb ataxia, and marked hypertrophy of peripheral nerves. Both domi...
121 and Fanconi anemia comple- mentation group FANCD1.122 Differential diagnosis Other inherited cancer susceptibility syndromes and/or genes that predispose to breast cancer include Li-Fraumeni syndrome, Cowden syndrome, hereditary diffuse gastric cancer, CHEK2, ataxia-telangiectasia, Lynch syndrome (also...