Progressive Hand Deformities and Foot Drop in an Adolescent Female: A Case Report of Clinically Suspected Charcot-Marie-Tooth Type 2 in a Resource-Limited Setting

Introduction. Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy, consisting of hereditary motor and sensory neuropathies traditionally classified as demyelinating (CMT type 1) or axonal (CMT type 2) based on nerve conduction studies, with next-generation sequencing now improving genetic diagnosis. CMT type 1 is more prevalent, accounting for 37.5% to 84% of cases, while CMT type 2 represents 12% to 35.9%, but limited epidemiological data on CMT type 2 make diagnosis and family tracing challenging. Case report. We report the case of a 16-year-old female who presented with a two-year history of progressive bilateral hand deformities and foot drop, with no sensory symptoms or sphincter disturbances. Family history revealed a similarly affected sister. Examination showed distal muscle wasting, clawing of fingers, pes cavus, hammer toes and areflexia in both lower limbs, with preserved upper limb reflexes and normal sensation. Nerve conduction studies (NCS) revealed absent motor responses with preserved sensory function and electromyography (EMG) indicated chronic denervation. These findings were clinically and electrophysiologically consistent with CMT type 2, although genetic studies could not be done due to financial constraints. Multidisciplinary care was planned including physiotherapy, orthotic support for foot drop and genetic counseling, in addition to ongoing neuromuscular follow-up. Conclusion. This adolescent case, clinically and electrophysiologically consistent with CMT type 2, was characterized by early hand deformities, absent sensory symptoms, and a strong family history. It highlights the importance of considering hereditary motor neuropathies in patients with distal muscle wasting, especially in settings where genetic testing is unavailable, and shows that careful clinical and electrophysiological assessment can support a probable diagnosis and appropriate management.