Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.
case_report · Level V
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Abstract
Two brothers presented with late-onset cerebellar ataxia and severe dysphonia. Brain MRI showed vermian and hemispheric cerebellar atrophy. Laringofiberscopy revealed laryngeal abductor paralysis in both patients. Neurophysiologic studies showed a pure motor neuropathy. The combined findings and the molecular analysis suggest a new familial disorder. Inheritance is most likely autosomal recessive, but X-linked transmission is also possible.
Medical subject headings
- Peripheral Nervous System Diseases
- Spinocerebellar Degenerations
- Vocal Cord Paralysis