CMT1A (Charcot-Marie-Tooth disease type 1A) is a hereditary neurological disorder that affects the peripheral nervous system, which is responsible for transmitting signals between the central nervous system (brain and spinal cord) and the rest of the body. Here are key points about the disease:

Cause:

Genetic Mutation: CMT1A is caused by a duplication of the PMP22 gene (Peripheral Myelin Protein 22) on chromosome 17. This results in abnormal production of the PMP22 protein, which is crucial for maintaining the structure and function of the myelin sheath - a protective covering around nerves.

Symptoms:

Muscle Weakness: Particularly in the lower legs and feet, leading to difficulty walking or running.

Sensory Loss: Reduced ability to feel pain, temperature, and touch in affected areas.

Deformities: High arches, hammer toes, and other foot abnormalities.

Progression: Symptoms often begin in adolescence or early adulthood and gradually worsen over time.

Prevalence:

CMT1A is the most common subtype of Charcot-Marie-Tooth disease, which overall affects about 1 in 2,500 people worldwide.

Diagnosis:

Genetic Testing: Confirms the PMP22 gene duplication.

Nerve Conduction Studies (NCS): Measures the speed of electrical signals in nerves, which is slowed in CMT1A due to damaged myelin.

Treatment:

There is no cure for CMT1A, but treatments focus on managing symptoms:

Physical Therapy: To maintain muscle strength and flexibility.

Orthopedic Devices: Braces or custom shoes to support mobility.

Pain Management: Medications or therapy for associated pain and discomfort.

CMT1A significantly impacts quality of life, but with proper management, many individuals can lead active lives.