Autosomal recessive Charcot-Marie-Tooth disease with hoarseness is a rare genetic disorder that affects the peripheral nerves. It is caused by mutations in the GJB1 gene, which is responsible for the production of a protein called connexin 32. People with this disorder experience progressive muscle weakness and wasting, as well as hoarseness due to damage to the vocal cords. Other symptoms may include numbness, tingling, and pain in the hands and feet.

The symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness include:

-Muscle Weakness and wasting in the lower legs and feet
-High arches of the feet
-Decreased sensation in the feet and legs
-Hoarseness
-Difficulty speaking
-Difficulty swallowing
-Difficulty breathing
-Difficulty chewing
-Difficulty walking
-Difficulty climbing stairs
-Difficulty standing on toes
-Difficulty lifting objects
-Pain in the feet and legs
-Loss of reflexes in the feet and legs
-Loss of balance and coordination

Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder that affects the peripheral nerves. Autosomal recessive CMT with hoarseness is caused by mutations in the GDAP1 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of the myelin sheath, which is a protective covering that surrounds nerve cells. Mutations in the GDAP1 gene lead to the production of an abnormal protein, which disrupts the formation and maintenance of the myelin sheath. This disruption can cause nerve cells to malfunction, leading to the signs and symptoms of CMT with hoarseness.

1. Speech therapy: Speech therapy can help to improve the quality of the voice and reduce hoarseness.

2. Voice therapy: Voice therapy can help to improve the quality of the voice and reduce hoarseness.

3. Surgery: Surgery may be recommended to correct any structural abnormalities that may be causing the hoarseness.

4. Medication: Medications such as steroids may be prescribed to reduce inflammation and improve vocal cord function.

5. Assistive devices: Assistive devices such as voice amplifiers may be recommended to help improve the quality of the voice.

1. Having a family history of the disease
2. Having a mutation in the PMP22, MPZ, or GJB1 gene
3. Being of Ashkenazi Jewish descent
4. Being exposed to certain environmental toxins
5. Having a weakened immune system
6. Having a vitamin B12 deficiency
7. Having a zinc deficiency
8. Having a copper deficiency
9. Having a folate deficiency
10. Having a vitamin E deficiency

At this time, there is no cure for Autosomal recessive Charcot-Marie-Tooth disease. However, there are medications that can help manage the symptoms, including hoarseness. These medications include anticonvulsants, muscle relaxants, and medications to reduce nerve pain. Additionally, physical therapy and occupational therapy can help improve muscle strength and coordination.