About Autosomal dominant spastic paraplegia type 17
What is Autosomal dominant spastic paraplegia type 17?
Autosomal dominant spastic paraplegia type 17 (SPG17) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG17 gene, which is located on chromosome 2. Symptoms typically begin in childhood or adolescence and worsen over time. Affected individuals may experience difficulty walking, balance problems, and muscle spasms. There is currently no cure for SPG17, but physical therapy and medications may help to manage symptoms.
What are the symptoms of Autosomal dominant spastic paraplegia type 17?
The symptoms of Autosomal dominant spastic paraplegia type 17 (SPG17) vary from person to person, but may include:
- Muscle Stiffness and Spasticity in the legs
- Difficulty walking, running, or climbing stairs
- Weakness in the legs
- Loss of sensation in the legs
- Loss of bladder and/or bowel control
- Difficulty with balance and coordination
- Pain in the legs
- Fatigue
- Difficulty with fine motor skills
- Speech and language difficulties
- Cognitive impairment
What are the causes of Autosomal dominant spastic paraplegia type 17?
Autosomal dominant spastic paraplegia type 17 (SPG17) 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 unable to transport materials within cells, which disrupts the normal functioning of nerve cells and leads to the signs and symptoms of SPG17.
What are the treatments for Autosomal dominant spastic paraplegia type 17?
1. Physical therapy: Physical therapy can help improve muscle strength, flexibility, and coordination. It can also help reduce spasticity and improve balance and gait.
2. Medications: Medications such as baclofen, diazepam, and tizanidine can help reduce spasticity and improve muscle control.
3. Surgery: Surgery may be recommended to release tight muscles or tendons, or to implant a device to help control spasticity.
4. Assistive devices: Assistive devices such as walkers, canes, and wheelchairs can help improve mobility.
5. Occupational therapy: Occupational therapy can help improve daily living skills and help with activities of daily living.
What are the risk factors for Autosomal dominant spastic paraplegia type 17?
1. Family history: Autosomal dominant spastic paraplegia type 17 is an inherited disorder, so having a family history of the condition increases the risk of developing it.
2. Age: The risk of developing Autosomal dominant spastic paraplegia type 17 increases with age.
3. Gender: Autosomal dominant spastic paraplegia type 17 is more common in males than females.
4. Ethnicity: Autosomal dominant spastic paraplegia type 17 is more common in people of Ashkenazi Jewish descent.
Is there a cure/medications for Autosomal dominant spastic paraplegia type 17?
At this time, there is no known cure for Autosomal dominant spastic paraplegia type 17. However, there are medications that can help manage the symptoms of the condition. These medications include muscle relaxants, antispasmodics, and medications to reduce pain. Physical therapy and occupational therapy can also help improve mobility and reduce pain.