Autosomal recessive spastic paraplegia type 69 (SPG69) 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 SPG69, but physical therapy and medications may help to manage symptoms.

The symptoms of Autosomal recessive spastic paraplegia type 69 (SPG69) 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 69 is caused by mutations in the SLC33A1 gene. This gene provides instructions for making a protein that is involved in transporting molecules into and out of cells. Mutations in this gene lead to a decrease in the amount of functional protein, which disrupts the transport of molecules and causes the signs and symptoms of this disorder.

Currently, there is no known cure for Autosomal recessive spastic paraplegia type 69. 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 69.
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 69. 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.