About Autosomal recessive spastic paraplegia type 35

What is Autosomal recessive spastic paraplegia type 35?

Autosomal recessive spastic paraplegia type 35 (SPG35) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness in the legs. Other symptoms may include bladder and bowel problems, speech difficulties, and cognitive impairment. Treatment is supportive and may include physical therapy, medications, and assistive devices.

What are the symptoms of Autosomal recessive spastic paraplegia type 35?

The symptoms of Autosomal recessive spastic paraplegia type 35 (SPG35) 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 35?

Autosomal recessive spastic paraplegia type 35 (SPG35) is caused by mutations in the KIF5A gene. This gene provides instructions for making a protein called kinesin family member 5A, which is involved in the transport of materials within cells. Mutations in the KIF5A gene lead to the production of an abnormally short, nonfunctional version of the kinesin family member 5A protein. This protein is thought to be involved in the development and maintenance of the long fibers that connect nerve cells in the brain and spinal cord (axons). Without a functional version of this protein, the axons cannot form or function properly, leading to the signs and symptoms of SPG35.

What are the treatments for Autosomal recessive spastic paraplegia type 35?

1. Physical therapy: Physical therapy can help improve muscle strength, flexibility, and coordination. It can also help reduce spasticity and improve balance and gait.

2. Medications: Medications such as baclofen, diazepam, and tizanidine can help reduce spasticity and improve muscle control.

3. Surgery: Surgery may be recommended to help improve mobility and reduce spasticity.

4. Assistive devices: Assistive devices such as walkers, canes, and wheelchairs can help improve mobility and independence.

5. Occupational therapy: Occupational therapy can help improve daily living skills and help with activities of daily living.

6. Speech therapy: Speech therapy can help improve communication skills.

What are the risk factors for Autosomal recessive spastic paraplegia type 35?

1. Having a family history of Autosomal recessive spastic paraplegia type 35.
2. Being of Ashkenazi Jewish descent.
3. Having a mutation in the SLC33A1 gene.
4. Being exposed to certain environmental factors.
5. Having a weakened immune system.

Is there a cure/medications for Autosomal recessive spastic paraplegia type 35?

At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 35. 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.