Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (AR-CMT A) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands, as well as sensory loss in the feet and hands. AR-CMT A is caused by mutations in the GJB1 gene, which is responsible for producing a protein called connexin 32. This protein is important for the normal functioning of the peripheral nerves.

The symptoms of Autosomal recessive intermediate Charcot-Marie-Tooth disease type A include:

-Muscle Weakness and Atrophy in the lower legs and feet
-High arches of the feet
-Foot drop
-Loss of sensation in the feet and lower legs
-Decreased reflexes in the lower legs
-Gait abnormalities
-Pain in the feet and lower legs
-Difficulty with balance and coordination
-Scoliosis
-Calf muscle enlargement
-Difficulty with fine motor skills

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is caused by mutations in the GJB1 gene, which encodes the protein connexin 32. Mutations in this gene can lead to a decrease in the amount of connexin 32 protein, which is necessary for the proper functioning of the peripheral nerves. Other causes of Autosomal recessive intermediate Charcot-Marie-Tooth disease type A include mutations in the MPZ, EGR2, and NEFL genes.

1. Physical therapy: Physical therapy can help to improve muscle strength, coordination, and balance. It can also help to reduce pain and improve mobility.

2. Assistive devices: Assistive devices such as braces, canes, and walkers can help to improve mobility and reduce pain.

3. Surgery: Surgery may be recommended to correct foot deformities or to release tight muscles.

4. Medications: Medications such as pain relievers, muscle relaxants, and anticonvulsants may be prescribed to help manage symptoms.

5. Gene therapy: Gene therapy is a new and experimental treatment that may be used to treat some forms of Charcot-Marie-Tooth disease.

1. Having a family history of Autosomal recessive intermediate Charcot-Marie-Tooth disease type A.

2. Being of Ashkenazi Jewish descent.

3. Having a mutation in the GJB1 gene.

4. Having a mutation in the MPZ gene.

5. Having a mutation in the EGR2 gene.

6. Having a mutation in the NEFL gene.

7. Having a mutation in the LITAF gene.

At this time, there is no cure for Autosomal recessive intermediate Charcot-Marie-Tooth disease type A. However, there are medications and treatments available to help manage the symptoms of the disease. These include physical therapy, occupational therapy, braces, splints, and medications to help reduce pain and muscle spasms. Additionally, surgery may be recommended in some cases to help improve mobility.