Autosomal recessive spastic paraplegia type 54 (SPG54) 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 involved in the transport of proteins within 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 may also affect the arms and hands. There is currently no cure for SPG54, but physical therapy and medications may help to manage symptoms.

The symptoms of Autosomal recessive spastic paraplegia type 54 (SPG54) 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 54 (SPG54) 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 SPG54.

Currently, there is no known cure for Autosomal recessive spastic paraplegia type 54 (SPG54). 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 adequate rest can help to improve overall health and quality of life.

1. Having a family history of Autosomal recessive spastic paraplegia type 54.
2. Being of Ashkenazi Jewish descent.
3. Having a mutation in the SPG54 gene.
4. Being exposed to environmental toxins.
5. Having a weakened immune system.
6. Having a vitamin B12 deficiency.
7. Having a history of head trauma.

At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 54. 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.