Genetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.

ABSTRACT:

Background

Charcot-Marie-Tooth disease is a spectrum of inherited disorders characterized by both motor and sensory manifestations, which include prominent distal muscle weakness, foot deformities (pes cavus and hammer toes), and sensory deficits. Postural tremor as a manifestation of Charcot-Marie-Tooth is seldom present, except in a variant of Charcot-Marie-Tooth subtype 1 (Roussy-Levy syndrome), and its presence often results in a diagnostic dilemma.

Case presentation

We present a 34-year-old Eritrean man who came to our hospital with a complaint of tremors of the hands of 6 months duration. Associated with this, he had difficulty walking and weakness of the distal extremities bilaterally, prominently involving the lower limbs. The patient denied a family history of such

SUBMITTER: Mohammed S 

PROVIDER: S-EPMC11600610 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature