About Autosomal recessive spastic paraplegia type 24

What is Autosomal recessive spastic paraplegia type 24?

Autosomal recessive spastic paraplegia type 24 (SPG24) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG24 gene, which is involved in the formation of the myelin sheath, a protective coating around nerve cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some cases, the disorder can also affect the arms and hands. There is currently no cure for SPG24, but physical therapy and medications can help manage symptoms.



What are the symptoms of Autosomal recessive spastic paraplegia type 24?

The symptoms of Autosomal recessive spastic paraplegia type 24 (SPG24) vary from person to person, but may include:

- Muscle Weakness and Stiffness in the legs
- Difficulty walking, running, or climbing stairs
- Loss of balance and coordination
- Abnormal gait
- Urinary and/or fecal incontinence
- Muscle spasms
- Pain in the legs
- Fatigue
- Difficulty with fine motor skills
- Speech and language difficulties
- Cognitive impairment



What are the causes of Autosomal recessive spastic paraplegia type 24?

Autosomal recessive spastic paraplegia type 24 (SPG24) is caused by mutations in the SPG24 gene. This gene provides instructions for making a protein called paraplegin, which is found in the mitochondria of cells. Mutations in the SPG24 gene lead to a decrease in the amount of paraplegin protein, which disrupts the normal function of mitochondria and causes the signs and symptoms of SPG24.



What are the treatments for Autosomal recessive spastic paraplegia type 24?

Currently, there is no known cure for Autosomal recessive spastic paraplegia type 24. Treatment focuses on managing the symptoms and preventing further complications. Treatment options may include physical therapy, occupational therapy, speech therapy, medications to reduce muscle spasms, braces or orthotics to improve mobility, and surgery to correct any deformities. Additionally, lifestyle modifications such as a healthy diet, regular exercise, and stress management can help improve quality of life.



What are the risk factors for Autosomal recessive spastic paraplegia type 24?

1. Having a family history of Autosomal recessive spastic paraplegia type 24.
2. Being of Ashkenazi Jewish descent.
3. Having a mutation in the SPG24 gene.
4. Being exposed to environmental toxins.
5. Having a weakened immune system.



Is there a cure/medications for Autosomal recessive spastic paraplegia type 24?

At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 24. Treatment focuses on managing the symptoms and preventing complications. This may include physical therapy, occupational therapy, speech therapy, orthopedic devices, and medications to reduce spasticity.