About Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

What is Autosomal recessive intermediate Charcot-Marie-Tooth disease type D?

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (AR-CMTD) 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-CMTD 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.

What are the symptoms of Autosomal recessive intermediate Charcot-Marie-Tooth disease type D?

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

-Muscle Weakness and Atrophy in the lower legs and feet
-Decreased sensation in the lower legs and feet
-High arches
-Hammertoes
-Foot drop
-Difficulty walking
-Difficulty running
-Difficulty climbing stairs
-Difficulty standing on toes
-Pain in the lower legs and feet
-Loss of reflexes in the lower legs and feet
-Loss of balance and coordination
-Scoliosis
-Fatigue

What are the treatments for Autosomal recessive intermediate Charcot-Marie-Tooth disease type D?

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.

What are the risk factors for Autosomal recessive intermediate Charcot-Marie-Tooth disease type D?

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

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 PRX gene.

7. Having a mutation in the NEFL gene.

Is there a cure/medications for Autosomal recessive intermediate Charcot-Marie-Tooth disease type D?

At this time, there is no cure for Autosomal recessive intermediate Charcot-Marie-Tooth disease type D. 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.