About Autosomal dominant spastic paraplegia type 3
What is Autosomal dominant spastic paraplegia type 3?
Autosomal dominant spastic paraplegia type 3 (SPG3) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the lower limbs. It is caused by mutations in the SPG3A gene, which is located on chromosome 2. Symptoms usually begin in childhood or adolescence and may include difficulty walking, stiffness in the legs, and weakness in the arms and legs. In some cases, the disorder can also cause cognitive impairment, seizures, and vision problems.
What are the symptoms of Autosomal dominant spastic paraplegia type 3?
The symptoms of Autosomal dominant spastic paraplegia type 3 (SPG3) vary from person to person, but may include:
- Muscle Stiffness and Spasticity in the legs
- Difficulty walking, running, or climbing stairs
- Weakness in the legs
- Loss of sensation in the legs
- Loss of bladder and/or bowel control
- Difficulty with balance and coordination
- Pain in the legs
- Abnormal gait
- Difficulty with fine motor skills
- Muscle wasting in the legs
- Scoliosis (curvature of the spine)
- Fatigue
What are the causes of Autosomal dominant spastic paraplegia type 3?
Autosomal dominant spastic paraplegia type 3 (SPG3) is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein that is involved in the formation of structures called endosomes, which are involved in the transport of molecules within cells. Mutations in the REEP1 gene lead to the production of an abnormal version of the protein, which disrupts the normal function of endosomes and causes the signs and symptoms of SPG3.
What are the treatments for Autosomal dominant spastic paraplegia type 3?
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 that can help reduce spasticity.
4. Assistive devices: Assistive devices such as walkers, canes, and wheelchairs can help improve mobility.
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 3?
1. Family history: Autosomal dominant spastic paraplegia type 3 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 3 increases with age.
3. Gender: Autosomal dominant spastic paraplegia type 3 is more common in males than females.
4. Ethnicity: Autosomal dominant spastic paraplegia type 3 is more common in people of Ashkenazi Jewish descent.
Is there a cure/medications for Autosomal dominant spastic paraplegia type 3?
At this time, there is no known cure for Autosomal dominant spastic paraplegia type 3. However, there are medications that can help manage the symptoms of the condition. These include muscle relaxants, antispasmodic medications, and medications to reduce pain. Physical therapy and occupational therapy can also help improve mobility and reduce pain.