Hereditary primary motor sensory neuropathy (Charcot Marie Tooth)

Case contributed by Cristina Farkas
Diagnosis certain


41 year old female with history of Charcot Marie Tooth, Turner's syndrome and obesity presenting with painful cavus foot, hammertoes, claw toes and mild calluses. Bilateral foot images obtained for pre-operative evaluation with ongoing bilateral foot pain.

Patient Data

Age: 41 years
Gender: Female

Mild to moderate diffuse osteopenia for a 41 year old. Mild hammertoe deformity involving the lateral toes with high plantar arch. Mild hallus valgus with mild soft tissue bunion deformity. Mild plantar heel spurring.

Right foot image: Two screws are seen transfixed at the base of the first metatarsal and a surgical clip is seen transfixed at the base of the second metatarsal likely from prior Lapidus surgery.



Case Discussion

Hereditary motor sensory neuropathy (HMSN) also known as Charcot-Marie-Tooth (CMT) disease is a spectrum of genetic disorders caused by specific mutations in several myelin genes that lead to defects in myelin structure, maintenance, and formation.

Treatment is supportive for most inherited neuropathies and often requires arranging bracing and supportive devices in addition to routine health maintenance to minimize risk of secondary neuropathies from weight gain, diabetes, thyroid disease, or excessive alcohol consumption.

This case was submitted with supervision and input from:

Soni C. Chawla, M.D.
Associate Professor
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center    

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