Charcot-Marie-Tooth disease axonal type 2Q

Charcot-Marie-Tooth disease axonal type 2Q is a rare form of a nerve disorder that is passed on in an autosomal dominant pattern. This condition typically begins in adolescence or early adulthood and is known for causing a gradual loss of strength in the muscles, especially in the lower legs. The pattern of muscle weakness is symmetrical, which means it affects both sides of the body similarly. People with this condition may experience muscle wasting and difficulty with balance and walking. The loss of deep tendon reflexes and changes in foot structure, like a high arch (pes cavus), are also noted along with mild to moderate loss of deep sensory feeling. This summary is based on trusted definitions and source fields provided, which help clarify how the disease typically presents in affected individuals.

Common symptoms include slowly progressive weakness and wasting of the muscles, especially in the distal lower limbs. People with this condition may have reduced or absent deep tendon reflexes, develop high-arched feet (pes cavus), and experience a mild to moderate loss of deep sensory perception.

This condition is caused by genetic changes in the DHTKD1 gene. It follows an autosomal dominant inheritance pattern, which means that a change in just one copy of the gene can cause the disease. The mutation in DHTKD1 leads to the symptoms seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.