Autosomal recessive spastic paraplegia type 67 (SPG67) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called acetyl-CoA synthetase. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and muscle wasting. There is currently no cure for SPG67, but physical therapy and other supportive treatments can help manage symptoms.

The symptoms of Autosomal recessive spastic paraplegia type 67 (SPG67) 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
- Muscle spasms
- Urinary incontinence
- Constipation
- Fatigue
- Pain in the legs and lower back
- Difficulty with fine motor skills
- Speech and language difficulties
- Cognitive impairment

Autosomal recessive spastic paraplegia type 67 (SPG67) 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 SPG67.

Currently, there is no known cure for Autosomal recessive spastic paraplegia type 67. Treatment focuses on managing the symptoms and preventing further complications. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage muscle spasms and pain. Assistive devices such as wheelchairs, walkers, and braces may also be used to help with mobility.

1. Having a family history of Autosomal recessive spastic paraplegia type 67.
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.

At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 67. 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.