Charcot-Marie-Tooth disease type 1C (CMT1C) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting, especially in the lower legs and feet, as well as sensory loss in the feet and hands. CMT1C is caused by mutations in the gene encoding the myelin protein zero (MPZ) gene.

The symptoms of Charcot-Marie-Tooth disease type 1C can vary from person to person, but generally include:

- Muscle Weakness and wasting in the lower legs and feet

- High arches of the feet

- Hammertoes

- Loss of sensation in the feet and lower legs

- Difficulty walking and running

- Loss of balance and coordination

- Pain in the feet and lower legs

- Curvature of the spine

- Abnormal gait

- Difficulty climbing stairs

- Difficulty with fine motor skills

Charcot-Marie-Tooth disease type 1C is caused by mutations in the GJB1 gene, which provides instructions for making a protein called connexin 32. This protein is found in the outer covering (myelin sheath) of nerve cells. Mutations in the GJB1 gene lead to the production of an abnormal connexin 32 protein, which disrupts the structure and function of the myelin sheath. This disruption interferes with the transmission of nerve signals, leading to the signs and symptoms of Charcot-Marie-Tooth disease type 1C.

The treatments for Charcot-Marie-Tooth disease type 1C vary depending on the severity of the condition. Generally, treatments focus on managing symptoms and slowing the progression of the disease. These treatments may include:

• Physical therapy: This can help improve muscle strength and coordination.

• Occupational therapy: This can help with activities of daily living, such as dressing and bathing.

• Orthopedic devices: These can help with balance and mobility.

• Medications: These can help reduce pain and improve muscle strength.

• Surgery: This can help correct deformities and improve mobility.

• Assistive devices: These can help with mobility, such as walkers, canes, and wheelchairs.

The primary risk factor for Charcot-Marie-Tooth disease type 1C is genetic inheritance. This condition is caused by mutations in the gene SH3TC2, which is located on chromosome 9. Other risk factors include family history of the condition, being of Ashkenazi Jewish descent, and having a parent with the condition.

At this time, there is no cure for Charcot-Marie-Tooth disease type 1C. However, there are medications and treatments available to help manage the symptoms. These include medications to reduce pain, physical therapy to help maintain muscle strength and mobility, orthopedic devices such as braces and splints, and surgery to correct foot deformities.