Hereditary Motor and Sensory Neuropathy Type II (HMSN II), also known as Charcot-Marie-Tooth disease Type 2 (CMT2), is a progressive neurological disorder that affects the peripheral nerves responsible for motor and sensory functions.
HMSN II is hereditary and primarily characterized by the degeneration and dysfunction of the peripheral nerves that transmit signals between the spinal cord, extremities, muscles, and sensory organs. The condition typically manifests in adolescence or early adulthood.
Clinically, individuals with HMSN II may experience a variety of symptoms including muscle weakness and atrophy, primarily affecting the lower limbs. Additionally, patients may experience reduced or absent deep tendon reflexes, loss of sensation, especially in the hands and feet, and frequent foot deformities such as high arches (pes cavus).
The underlying cause of HMSN II is often attributed to genetic mutations affecting certain genes responsible for the production of proteins required for normal peripheral nerve function and maintenance. These genetic abnormalities can interfere with nerve signal transmission, leading to progressive degeneration and dysfunction of the peripheral nerves.
Although there is currently no cure for HMSN II, treatment mainly focuses on managing the symptoms and improving quality of life. This can involve physical therapy, occupational therapy, orthopedic interventions, orthotics, and assistive devices. Genetic counseling is also recommended for affected individuals and their families to understand the hereditary nature of the condition and provide appropriate guidance for family planning.
