Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect is a rare inherited disorder caused by mutations in the ATP7A gene. This gene is responsible for the production of a protein that helps regulate copper levels in the body. People with this disorder have a defect in the way their bodies process copper, leading to a buildup of copper in the body. This can cause a variety of neurological symptoms, including muscle weakness, loss of sensation in the limbs, and difficulty walking.

The symptoms of Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect include:

-Muscle Weakness and Atrophy in the lower legs and feet
-Decreased sensation in the lower legs and feet
-High arches
-Hammertoes
-Foot drop
-Loss of reflexes
-Gait abnormalities
-Difficulty with balance
-Pain in the lower legs and feet
-Difficulty with fine motor skills
-Difficulty with coordination
-Difficulty with walking
-Difficulty with climbing stairs
-Difficulty with running and jumping
-Difficulty with handwriting
-Difficulty with buttoning buttons
-Difficulty with tying shoelaces

1. Dietary copper restriction: Dietary copper restriction is the mainstay of treatment for autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect. This involves avoiding foods that are high in copper, such as liver, shellfish, nuts, and chocolate.

2. Copper chelation therapy: Copper chelation therapy is a treatment that involves using medications to remove excess copper from the body. This can help reduce symptoms and slow the progression of the disease.

3. Vitamin B6 supplementation: Vitamin B6 supplementation may help reduce symptoms of axonal Charcot-Marie-Tooth disease due to copper metabolism defect.

4. Physical therapy: Physical therapy can help improve muscle strength and coordination, as well as reduce pain and improve mobility.

5. Assistive devices: Assistive devices, such as braces

1. Having a family history of Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect.

2. Having a mutation in the ATP7A gene, which is responsible for copper metabolism.

3. Being of a certain ethnic background, such as Ashkenazi Jewish, French Canadian, or Finnish.

4. Having a diet low in copper or other essential minerals.

5. Having a history of exposure to certain environmental toxins, such as lead or mercury.

At this time, there is no cure for Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect. However, there are medications that can help manage the symptoms of the disease. These medications include anticonvulsants, muscle relaxants, and medications to reduce nerve pain. Physical therapy and occupational therapy can also help to improve muscle strength and coordination. Additionally, a low-copper diet may be recommended to help manage the symptoms.