About Autosomal recessive spastic paraplegia type 75

What is Autosomal recessive spastic paraplegia type 75?

Autosomal recessive spastic paraplegia type 75 (SPG75) is a rare, inherited neurological disorder characterized by progressive muscle weakness and stiffness (spasticity) in the legs. It is caused by mutations in the SLC33A1 gene, which is responsible for the production of a protein called aspartoacylase. Symptoms usually begin in childhood and worsen over time, leading to difficulty walking and other mobility issues. SPG75 is a form of hereditary spastic paraplegia, a group of disorders that affect the nerves in the lower part of the body.

What are the symptoms of Autosomal recessive spastic paraplegia type 75?

The symptoms of Autosomal recessive spastic paraplegia type 75 (SPG75) 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 75?

Autosomal recessive spastic paraplegia type 75 (SPG75) is caused by mutations in the SLC33A1 gene. This gene provides instructions for making a protein called acetyl-CoA synthetase 1, which is involved in the production of energy in cells. Mutations in this gene lead to a decrease in the amount of acetyl-CoA synthetase 1 protein, which disrupts the production of energy in cells and causes the signs and symptoms of SPG75.

What are the treatments for Autosomal recessive spastic paraplegia type 75?

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 75?

1. Having a family history of Autosomal recessive spastic paraplegia type 75.
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 75?

At this time, there is no known cure for Autosomal recessive spastic paraplegia type 75. 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.