Condition Articles-Charcot Marie Tooth PDF

Charcot Marie Tooth PDF

Pdf Summary

Charcot-Marie-Tooth (CMT), also known as hereditary motor and sensory neuropathy, is a common peripheral neuropathy that affects approximately 1 in 2,500 individuals. It is characterized by progressive deformity and weakness in the foot and ankle. The disease disrupts the balance of forces in the foot and ankle due to uneven loss of motor strength in muscle groups, resulting in deformities such as foot drop and lesser toe deformity. CMT is a heterogenous group of neuropathies with varying forms (CMT1, CMT2, CMT3, CMT4, and CMTX) caused by different genetic mutations. The most common form is CMT1A, which is inherited as autosomal dominant and results from duplication of a region on chromosome 17 that codes for a dysfunctional myelin sheath protein. Other forms include CMT2, CMT3 (a more severe form presenting in infancy), CMT4 (presenting in infancy with severe disability by adolescence), and CMTX (x-linked caused by a point mutation affecting Schwann cells). Patients with CMT typically present in adolescence with complaints of weakness and atrophy in the lower legs and hands. Foot and ankle deformities such as hammer toes, claw toes, pes cavus, and varus hindfoot may be observed. Diagnosis is primarily based on nerve conduction studies and electromyography, with genetic testing used for determining inheritance patterns. Treatment for CMT is focused on supportive care and may involve a multimodal approach involving a neurologist, genetic counselor, physical and occupational therapists, and orthopedic surgeon. Physical therapy, the use of ankle-foot orthotics, and surgical interventions are used to maintain strength, minimize pain, and preserve function and independence. Surgical interventions may include soft tissue reconstruction, tendon transfers, osteotomy, and fusions. With proper care and treatment, individuals with CMT can live a full and productive life.

Keywords

Charcot-Marie-Tooth

hereditary motor and sensory neuropathy

peripheral neuropathy

foot and ankle deformities

CMT1A

CMT2

CMT3

CMT4

CMTX

genetic mutations