Autosomal recessive spastic paraplegia type 28 (SPG28) 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 typically begin in childhood or adolescence and may include difficulty walking, muscle stiffness, and weakness in the legs. In some cases, the disorder may also cause intellectual disability, seizures, and vision problems. Treatment is symptomatic and may include physical therapy, medications, and assistive devices.

The symptoms of Autosomal recessive spastic paraplegia type 28 (SPG28) 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

Autosomal recessive spastic paraplegia type 28 (SPG28) 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 axons of nerve cells, which are long fibers that transmit signals from the brain to the rest of the body. Without a functional version of this protein, the axons of nerve cells are unable to properly develop and function, leading to the signs and symptoms of SPG28.

Currently, there is no known cure for Autosomal recessive spastic paraplegia type 28. 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. In some cases, surgery may be recommended to help improve mobility.

1. Having a family history of Autosomal recessive spastic paraplegia type 28.
2. Being of Ashkenazi Jewish descent.
3. Having a mutation in the SLC33A1 gene.
4. Being exposed to environmental toxins.
5. Having a weakened immune system.

At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 28. 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.