Charcot-Marie-Tooth disease type 4F

Charcot-Marie-Tooth disease type 4F is a severe form of Charcot-Marie-Tooth disease that usually begins in childhood. It is a type of demyelinating disorder, meaning the protective covering of the nerves is affected. This results in symptoms such as muscle weakness and shrinking, particularly in the feet and lower legs. Many people also develop high arches (pes cavus) and face delays in reaching motor milestones. The condition is known for its slow progression, with both motor and sensory functions being impacted over time. The damage to the nerves leads to noticeable changes in muscle strength and sensation. This summary provides a basic understanding of the condition using information from trusted sources.

Common signs of this condition include weakness and shrinking of muscles, especially in the distal parts of the limbs. People may experience severe loss of sensation, balance problems (sensory ataxia), and high foot arches (pes cavus). Delays in motor development are also observed, which can include slower than usual achievement of movement milestones.

Charcot-Marie-Tooth disease type 4F is linked to changes in the PRX gene. These genetic changes affect the myelin sheath that covers and protects nerve fibers, leading to the demyelinating nature of the condition and its associated symptoms.

Information about treatment is currently limited for this condition.

This condition is slowly progressive and is considered severe due to its impact on both motor and sensory functions. However, detailed information about long-term outcomes and quality of life is currently limited for this condition.

Information about research is currently limited for this condition.