About Autosomal recessive spastic paraplegia type 20

What is Autosomal recessive spastic paraplegia type 20?

Autosomal recessive spastic paraplegia type 20 (SPG20) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness and difficulty with movement) of the lower limbs. It is caused by mutations in the SPG20 gene, which is located on chromosome 17. Symptoms typically begin in childhood or adolescence and may include difficulty walking, weakness in the legs, and spasticity of the lower limbs. Other symptoms may include bladder and bowel dysfunction, speech difficulties, and cognitive impairment. Treatment is symptomatic and may include physical therapy, medications, and assistive devices.

What are the symptoms of Autosomal recessive spastic paraplegia type 20?

The symptoms of Autosomal recessive spastic paraplegia type 20 (SPG20) 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
- Muscle wasting in the legs
- Pain in the legs
- Abnormal gait
- Difficulty with fine motor skills
- Speech and language difficulties
- Cognitive impairment

What are the causes of Autosomal recessive spastic paraplegia type 20?

Autosomal recessive spastic paraplegia type 20 (SPG20) is caused by mutations in the SPG20 gene. This gene provides instructions for making a protein called paraplegin, which is found in the mitochondria of cells. Mutations in the SPG20 gene lead to a shortage of paraplegin, which disrupts the normal function of mitochondria and causes the signs and symptoms of SPG20.

What are the treatments for Autosomal recessive spastic paraplegia type 20?

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 help improve mobility and reduce spasticity.

4. Assistive devices: Assistive devices such as walkers, canes, and wheelchairs can help improve mobility and independence.

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 20?

1. Having a family history of Autosomal recessive spastic paraplegia type 20.
2. Being of Ashkenazi Jewish descent.
3. Having a mutation in the SPG20 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 20?

At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 20. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and assistive devices.