About Autosomal recessive spastic paraplegia type 71
What is Autosomal recessive spastic paraplegia type 71?
Autosomal recessive spastic paraplegia type 71 (SPG71) 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 SPG71, but physical therapy and medications may help to manage symptoms.
What are the symptoms of Autosomal recessive spastic paraplegia type 71?
The symptoms of Autosomal recessive spastic paraplegia type 71 (SPG71) 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
What are the causes of Autosomal recessive spastic paraplegia type 71?
Autosomal recessive spastic paraplegia type 71 (SPG71) is caused by mutations in the KIF5A gene. Mutations in this gene lead to a decrease in the production of the KIF5A protein, which is involved in the transport of molecules within cells. This decrease in the production of the KIF5A protein leads to the development of SPG71.
What are the treatments for Autosomal recessive spastic paraplegia type 71?
Currently, there is no known cure for Autosomal recessive spastic paraplegia type 71 (SPG71). 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, and orthopedic devices such as braces or wheelchairs. In some cases, surgery may be recommended to help improve mobility.
What are the risk factors for Autosomal recessive spastic paraplegia type 71?
1. Having a family history of Autosomal recessive spastic paraplegia type 71.
2. Being of Ashkenazi Jewish descent.
3. Having a mutation in the SPG71 gene.
4. Being exposed to environmental toxins.
5. Having a weakened immune system.
Is there a cure/medications for Autosomal recessive spastic paraplegia type 71?
At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 71. 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.