About Distal spinal muscular atrophy type 3

What is Distal spinal muscular atrophy type 3?

Distal spinal muscular atrophy type 3 (DSMA3) is a rare, inherited neuromuscular disorder that affects the lower motor neurons in the spinal cord. It is caused by a mutation in the SMN2 gene, which is responsible for producing the survival motor neuron protein. Symptoms of DSMA3 include muscle weakness and wasting in the lower limbs, as well as difficulty walking and standing. In some cases, the disorder can also affect the upper limbs, leading to difficulty with fine motor skills. Treatment for DSMA3 is limited, but physical therapy and occupational therapy can help improve muscle strength and function.

What are the symptoms of Distal spinal muscular atrophy type 3?

The symptoms of Distal spinal muscular Atrophy type 3 (DSMA3) vary from person to person, but may include:

- Muscle Weakness in the hands, feet, and lower legs
- Difficulty walking or running
- Loss of muscle mass in the arms and legs
- Difficulty with fine motor skills such as writing or buttoning a shirt
- Loss of sensation in the hands and feet
- Muscle cramps and twitching
- Difficulty with balance and coordination
- Difficulty climbing stairs or rising from a seated position
- Difficulty with swallowing or speaking

What are the causes of Distal spinal muscular atrophy type 3?

Distal spinal muscular atrophy type 3 (DSMA3) is caused by a mutation in the DYNC1H1 gene, which is located on chromosome 14. This gene provides instructions for making a protein called dynactin 1, which is involved in the movement of structures within cells. Mutations in the DYNC1H1 gene lead to the production of an abnormal dynactin 1 protein, which disrupts the movement of structures within cells and causes the muscle weakness and wasting associated with DSMA3.

What are the treatments for Distal spinal muscular atrophy type 3?

1. Physical therapy: Physical therapy can help to maintain muscle strength and improve range of motion.

2. Assistive devices: Assistive devices such as wheelchairs, walkers, and braces can help to improve mobility and independence.

3. Medications: Medications such as baclofen, diazepam, and tizanidine can help to reduce spasticity and improve muscle strength.

4. Surgery: Surgery may be recommended in some cases to help improve mobility and reduce pain.

5. Nutritional support: Proper nutrition is important for maintaining muscle strength and overall health.

6. Genetic counseling: Genetic counseling can help to provide information about the condition and the risks associated with it.

What are the risk factors for Distal spinal muscular atrophy type 3?

1. Genetic mutation: Distal spinal muscular atrophy type 3 is caused by a mutation in the SMN1 gene.

2. Age: The risk of developing distal spinal muscular atrophy type 3 increases with age.

3. Family history: Individuals with a family history of distal spinal muscular atrophy type 3 are at an increased risk of developing the condition.

4. Gender: Distal spinal muscular atrophy type 3 is more common in males than females.

Is there a cure/medications for Distal spinal muscular atrophy type 3?

There is currently no cure for distal spinal muscular atrophy type 3 (DSMA3). However, there are medications that can help manage the symptoms of the condition. These include medications to help with muscle weakness, such as baclofen and dantrolene, as well as medications to help with pain, such as gabapentin and pregabalin. Physical therapy and occupational therapy can also help to improve muscle strength and function.