Hereditary Motor and Sensory Neuropathy Type II (HMSN Type II) is a rare genetic disorder that affects the peripheral nerves, leading to motor and sensory problems. It is also known as "axonal" or "neuronal" Charcot-Marie-Tooth disease (CMT). This condition is characterized by progressive muscle weakness and wasting, diminished reflexes, sensory disturbances, and potential foot deformities.
The main feature of HMSN Type II is the dysfunction of the peripheral nerves responsible for transmitting signals between the spinal cord and muscles, as well as conveying sensory information. This impairment results in muscle weakness and wasting, particularly in the distal areas of the limbs, such as the feet and hands. Individuals with this condition may experience difficulty walking, balancing, and performing fine motor tasks.
Sensory disturbances associated with HMSN Type II include decreased sensitivity to touch, pain, temperature, and vibration. These sensory deficits may lead to a reduced ability to detect potential hazards and injuries.
HMSN Type II is caused by genetic mutations, usually inherited from one or both parents, affecting the proteins responsible for the structure and functioning of peripheral nerves. The severity of symptoms varies among affected individuals, even within the same family.
Although there is currently no cure for HMSN Type II, management focuses on symptom relief and maximizing functional abilities. Treatments include physical therapy to enhance strength and coordination, orthopedic interventions to manage foot deformities, assistive devices, and pain management strategies.
Genetic counseling is important for individuals with HMSN Type II, as it helps them understand the inheritance pattern and provides information regarding family planning and potential treatments.
