About Autosomal recessive spastic paraplegia type 45
What is Autosomal recessive spastic paraplegia type 45?
Autosomal recessive spastic paraplegia type 45 (SPG45) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG45 gene, which is located on chromosome 17. Symptoms usually begin in childhood or adolescence and may include difficulty walking, difficulty with balance, and muscle spasms. In some cases, the disorder may also affect the arms and hands. There is currently no cure for SPG45, but physical therapy and medications may help to manage symptoms.
What are the symptoms of Autosomal recessive spastic paraplegia type 45?
The symptoms of Autosomal recessive spastic paraplegia type 45 (SPG45) 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 45?
Autosomal recessive spastic paraplegia type 45 (SPG45) is a rare genetic disorder caused by mutations in the SPG45 gene. The exact cause of the mutations is unknown, but they are believed to be inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder. Mutations in the SPG45 gene are thought to disrupt the normal function of the protein it produces, leading to the development of SPG45.
What are the treatments for Autosomal recessive spastic paraplegia type 45?
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 correct any structural abnormalities in the spine or to release tight muscles.
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.
6. Speech therapy: Speech therapy can help improve communication skills.
What are the risk factors for Autosomal recessive spastic paraplegia type 45?
1. Having a family history of Autosomal recessive spastic paraplegia type 45.
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 45?
At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 45. 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.