Abstract

Background: The distal hereditary motor neuropathies (dHMN) have been characterized through case reports and family studies. Their genetic characterization remains a work in progress. An appreciation of the genetic underpinnings may lead to treatment options in the future. Hence reports, like this one, which add to this understanding, remain extremely important. Methods: The clinical presentations, electrophysiology and genetics of two patients with the dHMN I phenotype are described. Results: A mother and son presented with slowly progressive distal weakness of the lower extremities with onset in the first and second decades. Distal weakness of the upper extremities developed later. Examination 20 and 50 years after onset revealed wasting and weakness of distal upper and lower extremity muscles with absent distal and preserved proximal deep tendon reflexes. Sensory examination was normal. Electrodiagnostic studies demonstrated a motor axonopathy. Genetics testing revealed a missense mutation on chromosome 7, exon 11 of the GARS gene: c.1415A>G (p.His472Arg). Conclusions: GARS mutations have been identified in patients with the dHMN I (juvenile onset distal weakness and wasting) and dHMN V (upper limb predominant) phenotypes. However, this mutation has not previously been directly linked to the dHMN I phenotype.

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