About Autosomal dominant spastic paraplegia type 38

What is Autosomal dominant spastic paraplegia type 38?

Autosomal dominant spastic paraplegia type 38 (SPG38) 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 KIF5A gene, which is involved in the transport of proteins within cells. 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, muscle wasting, and cognitive impairment. Treatment is supportive and may include physical therapy, medications, and assistive devices.

What are the symptoms of Autosomal dominant spastic paraplegia type 38?

The symptoms of Autosomal dominant spastic paraplegia type 38 (SPG38) 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
- Pain in the legs
- Muscle spasms
- Difficulty with fine motor skills
- Cognitive impairment
- Speech difficulties
- Hearing loss
- Vision problems

What are the causes of Autosomal dominant spastic paraplegia type 38?

Autosomal dominant spastic paraplegia type 38 (SPG38) is caused by mutations in the KIF5A gene. This gene provides instructions for making a protein called kinesin-1, which is involved in the transport of materials within cells. Mutations in the KIF5A gene lead to the production of an abnormal kinesin-1 protein, which disrupts the transport of materials within cells and causes the signs and symptoms of SPG38.

What are the treatments for Autosomal dominant spastic paraplegia type 38?

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 braces, walkers, 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.

What are the risk factors for Autosomal dominant spastic paraplegia type 38?

1. Family history: Autosomal dominant spastic paraplegia type 38 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 38 increases with age.

3. Gender: Autosomal dominant spastic paraplegia type 38 is more common in males than females.

4. Ethnicity: Autosomal dominant spastic paraplegia type 38 is more common in people of Ashkenazi Jewish descent.

Is there a cure/medications for Autosomal dominant spastic paraplegia type 38?

At this time, there is no known cure or medications for Autosomal dominant spastic paraplegia type 38. Treatment is focused on managing the symptoms, which may include physical therapy, occupational therapy, and medications to reduce spasticity.