About Autosomal recessive spastic paraplegia type 70

What is Autosomal recessive spastic paraplegia type 70?

Autosomal recessive spastic paraplegia type 70 (SPG70) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the KIF5A gene, which is responsible for the production of a protein that helps transport materials within cells. Symptoms usually begin in childhood or adolescence and may include difficulty walking, muscle spasms, and difficulty with balance and coordination. In some cases, the disorder can also affect the arms and hands. Treatment is supportive and may include physical therapy, medications, and assistive devices.

What are the symptoms of Autosomal recessive spastic paraplegia type 70?

The symptoms of Autosomal recessive spastic paraplegia type 70 (SPG70) 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 70?

Autosomal recessive spastic paraplegia type 70 is caused by mutations in the SLC33A1 gene. This gene provides instructions for making a protein that is involved in transporting molecules across cell membranes. Mutations in this gene lead to a decrease in the amount of functional protein, which disrupts the transport of molecules and causes the signs and symptoms of this condition.

What are the treatments for Autosomal recessive spastic paraplegia type 70?

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 70?

1. Having a family history of Autosomal recessive spastic paraplegia type 70.
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 70?

At this time, there is no known cure for Autosomal recessive spastic paraplegia type 70. 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.