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

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

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (AR-CMT2C) 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. Other symptoms may include foot deformities, such as high arches, hammertoes, and claw toes. AR-CMT2C is caused by mutations in the GDAP1 gene and is inherited in an autosomal recessive manner.

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

The symptoms of Autosomal recessive intermediate Charcot-Marie-Tooth disease type C can vary from person to person, but generally 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 balance
- Difficulty climbing stairs
- Difficulty running
- Difficulty with fine motor skills
- Loss of reflexes in the lower legs and feet
- Pain in the lower legs and feet
- Abnormal gait

What are the causes of Autosomal recessive intermediate Charcot-Marie-Tooth disease type C?

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 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 C include mutations in the MPZ, EGR2, and NEFL genes.

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

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 may be recommended to help improve nerve function.

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

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

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 C?

At this time, there is no cure for Autosomal recessive intermediate Charcot-Marie-Tooth disease type C. However, there are medications and treatments available to help manage the symptoms of the disease. These include medications to reduce muscle spasms, 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.