About Autosomal recessive spastic paraplegia type 18

What is Autosomal recessive spastic paraplegia type 18?

Autosomal recessive spastic paraplegia type 18 (SPG18) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SPG18 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 SPG18, but physical therapy and medications may help to manage symptoms.

What are the symptoms of Autosomal recessive spastic paraplegia type 18?

The symptoms of Autosomal recessive spastic paraplegia type 18 (SPG18) 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
- Pain in the legs and lower back
- Difficulty with fine motor skills
- Speech and language difficulties
- Cognitive impairment

What are the causes of Autosomal recessive spastic paraplegia type 18?

Autosomal recessive spastic paraplegia type 18 (SPG18) is caused by mutations in the SPG18 gene. This gene provides instructions for making a protein called paraplegin, which is found in the mitochondria of cells. Mutations in the SPG18 gene lead to a decrease in the amount of paraplegin protein, which disrupts the normal function of mitochondria and causes the signs and symptoms of SPG18.

What are the treatments for Autosomal recessive spastic paraplegia type 18?

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 18?

1. Having a family history of Autosomal recessive spastic paraplegia type 18.
2. Being of Ashkenazi Jewish descent.
3. Having a mutation in the SPG18 gene.
4. Being exposed to environmental toxins.
5. Having a weakened immune system.

Is there a cure/medications for Autosomal recessive spastic paraplegia type 18?

At this time, there is no known cure or medications for Autosomal recessive spastic paraplegia type 18. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and assistive devices.