Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (AR-CMTB) 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-CMTB is caused by mutations in the GDAP1 gene, which is responsible for producing a protein that helps maintain the structure and function of the peripheral nerves.

The symptoms of Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (AR-CMTB) include:

- Muscle Weakness and Atrophy in the lower legs and feet
- Loss of sensation in the lower legs and feet
- High arches of the feet
- Hammertoes
- Difficulty walking
- Loss of reflexes
- Loss of balance
- Difficulty climbing stairs
- Difficulty running or jumping
- Pain in the legs and feet
- Abnormal gait
- Difficulty with fine motor skills
- Difficulty with handwriting

The cause of Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is mutations in the GDAP1 gene. This gene provides instructions for making a protein called ganglioside-induced differentiation-associated protein 1 (GDAP1). This protein is involved in the development and maintenance of the myelin sheath, which is the protective covering that surrounds nerve cells. Mutations in the GDAP1 gene lead to the production of an abnormal GDAP1 protein or no protein at all, which disrupts the formation and maintenance of the myelin sheath. This disruption impairs the ability of nerve cells to send and receive signals, leading to the signs and symptoms of Autosomal recessive intermediate Charcot-Marie-Tooth disease type B.

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. Orthotics: Orthotics such as custom-made shoe inserts can help to reduce pain and improve mobility.

6. Nutritional supplements: Nutritional supplements such as vitamin B12 and folate may be recommended to help improve nerve function.

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

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 B. 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.