Autosomal recessive spastic paraplegia type 78 (SPG78) 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 SPG78, but physical therapy and medications may help to manage symptoms.

The symptoms of Autosomal recessive spastic paraplegia type 78 (SPG78) 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 and/or fecal incontinence
- Cognitive impairment
- Seizures
- Visual impairment
- Hearing loss
- Speech difficulties
- Abnormal reflexes
- Abnormal sensation in the legs

Autosomal recessive spastic paraplegia type 78 (SPG78) 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 SPG78.

Currently, there is no known cure for Autosomal recessive spastic paraplegia type 78. 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 78.
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 78. 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.