HMSN Type I, also known as Charcot-Marie-Tooth disease type 1, is a hereditary neuromuscular disorder that affects the peripheral nerves. It is one of the variants of Charcot-Marie-Tooth disease (CMT), which encompasses a group of inherited conditions characterized by the progressive degeneration of the peripheral nerves that control muscle movement and sensation.
In HMSN Type I, the primary features are a gradual weakening and wasting of the muscles in the extremities, mainly the lower legs and feet, resulting in a typical 'stork leg' appearance. This condition typically manifests in early childhood or adolescence and progresses slowly over the individual's lifetime.
The underlying cause of HMSN Type I is a genetic mutation that affects the production or structure of proteins involved in the formation and maintenance of the myelin sheath, a protective covering around the nerves. This myelin sheath is essential for proper nerve signal transmission. The degeneration of the myelin sheath leads to impaired communication between the nerves and the muscles, resulting in muscle weakness, loss of coordination, and sensory disturbances.
Symptoms may include difficulty walking, frequent tripping or falling, loss of muscle bulk, foot deformities such as high arches or hammer toes, loss of sensation in the lower limbs, and muscle cramps. It is important to note that the severity and age of onset can vary among affected individuals.
While there is currently no cure for HMSN Type I, supportive care and management focus on minimizing symptoms and maximizing function. Physical therapy, assistive devices such as orthotic braces, and pain management strategies may be employed to improve quality of life and maintain independence for individuals with this condition. Genetic counseling may also be offered to affected individuals and their families to better understand the genetic implications and help make
