Machado Joseph's Disease in a Togolese Family: A Case Report

Abstract

Spinocerebellar ataxias (SCAs) are rare neurodegenerative disorders of adults characterized by autosomal dominant inheritance. Machado-Joseph disease (MJD) or ASC type 3 is the most common worldwide. We report the first cases of MJD in a Togolese family. We performed a cross-sectional study based on a case of MMJ disease confirmed by genetic testing. We then conducted a family survey to identify suspected familial cases of the disease. The confirmed case was a 46 year old Togolese woman of Ewe ethnicity (south of Togo), hypertensive, who was seen in consultation for speech and walking disorders that had been progressively worsening for 9 years and had been confined to a wheelchair for 3 years. In the family history, we noted similar cases without a precise diagnosis. On examination, we noted cerebellar dysarthria, difficulties in performing calculations, spastic tetraparesis at 4/5, kinetic and static ataxia. Brain magnetic resonance imaging showed cerebral atrophy more marked in the posterior fossa. Genetic analysis revealed the presence of an expanded allele located in the pathological zone at the ASC3 locus, which confirmed the diagnosis. The family investigation allowed us to identify six suspected cases on clinical grounds. This observation confirms the ubiquitous nature of MJD. The existence of a family history of gait disorders in a patient with cerebellar ataxia should raise the possibility of ASC.