The symptoms of Charcot-Marie-Tooth disease type 1D 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

- Difficulty with 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 1D 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 formation and maintenance of the myelin sheath. This disruption impairs the ability of nerve cells to send signals, leading to the signs and symptoms of Charcot-Marie-Tooth disease type 1D.

The treatments for Charcot-Marie-Tooth disease type 1D vary depending on the severity of the condition. Generally, treatments focus on managing symptoms and preventing further progression of the disease. These treatments may include physical therapy, occupational therapy, orthopedic braces, medications to reduce pain and muscle spasms, and surgery to correct foot deformities. In some cases, stem cell therapy may be used to help regenerate nerve cells.

The primary risk factor for Charcot-Marie-Tooth disease type 1D is genetic inheritance. This condition is caused by mutations in the GJB1 gene, which is passed down from parent to child. Other risk factors include having a family history of the condition, being of Ashkenazi Jewish descent, and being male.

At this time, there is no cure for Charcot-Marie-Tooth disease type 1D. 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 to help support weakened muscles, and surgery to correct foot deformities.