17p12 Deletion Syndrome (Charcot-Marie-Tooth Disease Type 1A)

1. Causes of the disease

17p12 deletion syndrome is caused by the deletion of a gene located in the short arm (17p12) region of chromosome 17. The deletion of this gene causes abnormalities in the peripheral nerves and is known to cause Charcot-Marie-Tooth disease type 1A (CMT1A). This causes a decrease in nerve conduction velocity, resulting in abnormalities in muscle strength and sensation.

2. Symptoms

• Muscle weakness : Muscle weakness, mainly in the lower limbs, can occur, making walking difficult.
• Paresthesia : Numbness or paresthesia may occur in the hands and feet.
• Foot deformities : Foot deformities such as high arches and hammertoes may be present.
• Motor difficulties : This can affect fine motor skills and hand movements.

3. Treatment

• Physical therapy : Physical therapy is used to maintain muscle strength and support movement function.
• Use of braces : Braces or supports may be used to help with walking.
• Surgical intervention : Surgery may be performed to correct a deformed foot or hand.

4. Prognosis

It is a progressive disease, but with proper management and support, symptoms can be reduced and people can live their daily lives better.

5. The burden on parents

The need for long-term physical therapy and bracing can be a big burden on families, so it is important to work with support groups and the medical team to provide support for the patient.