About Familial syringomyelia

What is Familial syringomyelia?

Familial syringomyelia is a rare inherited disorder that affects the spinal cord. It is caused by a genetic mutation that causes the formation of a fluid-filled cavity (syrinx) within the spinal cord. Symptoms of familial syringomyelia can include pain, weakness, and stiffness in the arms and legs, as well as problems with balance and coordination. In some cases, the syrinx can cause damage to the spinal cord, leading to paralysis. Treatment for familial syringomyelia typically involves medications to reduce pain and inflammation, as well as physical therapy to help maintain muscle strength and mobility. Surgery may also be recommended to help reduce the size of the syrinx and prevent further damage to the spinal cord.

What are the symptoms of Familial syringomyelia?

The symptoms of Familial syringomyelia can vary depending on the severity of the condition, but may include:

-Pain in the neck, shoulders, back, and arms

-Weakness in the arms and legs

-Loss of sensation in the arms and legs
-Loss of reflexes
-Scoliosis
-Headaches
-Loss of bladder and bowel control
-Muscle spasms
-Loss of balance and coordination
-Difficulty swallowing
-Excessive sweating
-Fatigue

What are the causes of Familial syringomyelia?

Familial syringomyelia is caused by a genetic mutation in the genes that control the development of the central nervous system. The most common gene mutation associated with familial syringomyelia is the CXCR4 gene. Other genetic mutations that have been linked to familial syringomyelia include the SCN8A, SHH, and HESX1 genes.

What are the treatments for Familial syringomyelia?

1. Surgery: Surgery is the most common treatment for familial syringomyelia. The goal of surgery is to reduce the pressure in the syrinx and to prevent further damage to the spinal cord. This can be done by creating a shunt to drain the fluid from the syrinx or by removing the obstruction that is causing the fluid to build up.

2. Medication: Medications such as pain relievers, muscle relaxants, and anti-inflammatory drugs can be used to help manage the symptoms of familial syringomyelia.

3. Physical Therapy: Physical therapy can help to improve strength, flexibility, and range of motion in the affected areas.

4. Assistive Devices: Assistive devices such as braces, canes, and walkers can help to improve mobility and reduce the risk of falls.

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What are the risk factors for Familial syringomyelia?

1. Family history of syringomyelia
2. Genetic mutations
3. Chiari malformation
4. Spinal cord trauma
5. Spinal cord tumors
6. Spinal cord infections
7. Spinal cord inflammation
8. Hydrocephalus
9. Arnold-Chiari malformation
10. Spinal cord vascular malformations

Is there a cure/medications for Familial syringomyelia?

At this time, there is no cure for Familial Syringomyelia. However, medications and treatments can be used to manage the symptoms. These include medications to reduce pain, physical therapy, and surgery to relieve pressure on the spinal cord.