About Autosomal recessive spastic paraplegia type 77

What is Autosomal recessive spastic paraplegia type 77?

Autosomal recessive spastic paraplegia type 77 (SPG77) 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 and worsen over time, leading to difficulty walking and other mobility issues. SPG77 is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected.

What are the symptoms of Autosomal recessive spastic paraplegia type 77?

The symptoms of Autosomal recessive spastic paraplegia type 77 (SPG77) 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
- Difficulty speaking
- Cognitive impairment
- Seizures
- Visual impairment
- Hearing loss

What are the causes of Autosomal recessive spastic paraplegia type 77?

Autosomal recessive spastic paraplegia type 77 (SPG77) is caused by mutations in the gene called SPG77. Mutations in this gene lead to a decrease in the production of a protein called spastin, which is important for the normal functioning of the nervous system. Mutations in the SPG77 gene can cause a wide range of symptoms, including muscle weakness, spasticity, and difficulty walking.

What are the treatments for Autosomal recessive spastic paraplegia type 77?

Currently, there is no known cure for Autosomal recessive spastic paraplegia type 77. 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.

What are the risk factors for Autosomal recessive spastic paraplegia type 77?

1. Having a family history of Autosomal recessive spastic paraplegia type 77.
2. Being of Ashkenazi Jewish descent.
3. Having a mutation in the SLC33A1 gene.
4. Being exposed to certain environmental toxins.
5. Having a weakened immune system.

Is there a cure/medications for Autosomal recessive spastic paraplegia type 77?

At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 77. 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.