Proximal spinal muscular atrophy type 1 (SMA1) is a rare, inherited neuromuscular disorder caused by a mutation in the SMN1 gene. It is the most severe form of spinal muscular atrophy (SMA) and is characterized by progressive muscle weakness and wasting, leading to severe disability and, in some cases, early death. Symptoms usually begin in infancy and include difficulty with movement, breathing, and swallowing. There is currently no cure for SMA1, but physical therapy, occupational therapy, and supportive care can help improve quality of life.

The symptoms of Proximal spinal muscular Atrophy type 1 (SMA1) vary from person to person, but may include:

-Weakness in the arms and legs

-Loss of muscle tone

-Difficulty sitting up without support

-Difficulty swallowing

-Difficulty breathing

-Loss of reflexes

-Loss of head control

-Scoliosis

-Contractures of the joints

-Difficulty speaking

-Difficulty chewing

-Loss of sensation in the hands and feet

Proximal spinal muscular atrophy type 1 (SMA1) is caused by a genetic mutation in the SMN1 gene. This gene is responsible for producing a protein called survival motor neuron (SMN) which is essential for the maintenance and function of the nerves that control muscle movement. Without this protein, the nerves become damaged and the muscles weaken and atrophy.

1. Physical therapy: Physical therapy can help to maintain muscle strength and range of motion, as well as improve coordination and balance.

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 dantrolene can help to reduce muscle spasms and improve muscle strength.

4. Surgery: Surgery may be recommended to correct scoliosis or other deformities caused by the condition.

5. Gene therapy: Gene therapy is a promising new treatment option for people with SMA type 1. It involves introducing a healthy copy of the SMN1 gene into the body to replace the defective gene.

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

2. Family history: Having a family history of the disorder increases the risk of developing the condition.

3. Age: Proximal spinal muscular atrophy type 1 is more common in infants and young children.

4. Gender: Boys are more likely to be affected than girls.

Unfortunately, there is no cure for proximal spinal muscular atrophy type 1 (SMA1). However, there are medications available to help manage the symptoms of SMA1. These medications include physical therapy, occupational therapy, speech therapy, and medications to help with muscle weakness, breathing, and swallowing. Additionally, there are clinical trials underway to explore potential treatments for SMA1.