About Autosomal dominant spastic paraplegia type 12

What is Autosomal dominant spastic paraplegia type 12?

Autosomal dominant spastic paraplegia type 12 (SPG12) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG12 gene, which is located on chromosome 12. Symptoms usually begin in childhood or adolescence and can include difficulty walking, stiffness in the legs, and weakness in the lower limbs. In some cases, the disorder can also cause cognitive impairment, seizures, and vision problems.

What are the symptoms of Autosomal dominant spastic paraplegia type 12?

The symptoms of Autosomal dominant spastic paraplegia type 12 (SPG12) include:

- Muscle Stiffness and Spasticity in the legs
- Difficulty walking, running, and climbing stairs
- Weakness in the legs
- Loss of sensation in the legs
- Loss of bladder and bowel control
- Difficulty with balance and coordination
- Muscle wasting in the legs
- Pain in the legs
- Difficulty with fine motor skills
- Speech and language difficulties
- Cognitive impairment

What are the causes of Autosomal dominant spastic paraplegia type 12?

Autosomal dominant spastic paraplegia type 12 (SPG12) is caused by mutations in the SPG12 gene. This gene provides instructions for making a protein called paraplegin, which is found in the mitochondria of cells. Mutations in the SPG12 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 SPG12.

What are the treatments for Autosomal dominant spastic paraplegia type 12?

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 12?

1. Family history: Autosomal dominant spastic paraplegia type 12 (SPG12) is caused by a mutation in the SPG12 gene, which is inherited in an autosomal dominant pattern. This means that if one parent has the mutation, there is a 50% chance that their child will inherit the mutation.

2. Age: SPG12 is typically diagnosed in childhood or adolescence, although it can occur at any age.

3. Gender: SPG12 is more common in males than females.

4. Ethnicity: SPG12 is more common in people of Ashkenazi Jewish descent.

Is there a cure/medications for Autosomal dominant spastic paraplegia type 12?

At this time, there is no known cure for Autosomal dominant spastic paraplegia type 12 (SPG12). However, there are medications that can help manage the symptoms of the condition. These include medications to reduce muscle spasms, such as baclofen and diazepam, as well as medications to reduce pain, such as gabapentin and pregabalin. Physical therapy and occupational therapy can also help to improve mobility and reduce pain.