HMSN, also known as hereditary motor and sensory neuropathy, is a collective term encompassing a group of genetic disorders that affect the peripheral nervous system. It is characterized by the degeneration or dysfunction of peripheral nerves, leading to motor, sensory, and sometimes autonomic impairments.
The term HMSN is often used interchangeably with Charcot-Marie-Tooth (CMT) disease, as they both essentially refer to the same group of conditions. HMSN/CMT is named after the three physicians who first identified and described it in 1886: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.
The key features of HMSN include muscle weakness and atrophy, particularly in the lower limbs, resulting in difficulties with walking and balance. Sensory disturbances, such as numbness, tingling, or decreased sensation, may also be present. As the disease progresses, individuals with HMSN may experience loss of fine motor skills in their hands and feet, which can impact their dexterity and coordination.
HMSN is predominantly a hereditary disorder, meaning it is passed down through families. Inheritance can occur in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific genetic mutation involved. However, spontaneous gene mutations can also result in the development of HMSN in some cases.
Treatment for HMSN is typically aimed at managing symptoms rather than curing the condition. Physical therapy, orthopedic interventions (e.g., orthotic devices), and assistive devices (e.g., canes or braces) play an essential role in maintaining mobility and maximizing independence for individuals affected by HMSN.
