OBSOLETE: Hereditary motor and sensory neuropathy

Hereditary motor and sensory neuropathy (HMSN) is an obsolete umbrella term that was historically used to describe a group of inherited peripheral nerve disorders now more commonly known as Charcot-Marie-Tooth disease (CMT) and related neuropathies. The Orphanet entry 140450 is designated as OBSOLETE, meaning this classification is no longer actively maintained as a distinct entity and has been replaced by more specific disease entries. Patients and clinicians seeking information should refer to the individual subtypes of Charcot-Marie-Tooth disease (such as CMT1, CMT2, CMT4, CMTX, and others), each of which has its own genetic basis, inheritance pattern, and clinical characteristics. Historically, HMSN encompassed conditions affecting the peripheral nervous system, leading to progressive weakness and atrophy of distal muscles (particularly in the feet, lower legs, hands, and forearms), sensory loss, reduced or absent deep tendon reflexes, and foot deformities such as pes cavus and hammer toes. The severity and age of onset vary widely depending on the specific genetic subtype. Some forms are demyelinating (affecting the myelin sheath around nerves), while others are axonal (affecting the nerve fibers themselves). Because this is an obsolete grouping rather than a single disease, patients are encouraged to seek a precise genetic diagnosis through molecular testing. Treatment for the various CMT subtypes remains largely supportive, including physical therapy, occupational therapy, orthotic devices, pain management, and in some cases orthopedic surgery. No disease-modifying therapies are currently approved, though clinical trials are ongoing for several subtypes.

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