Spinal muscular atrophy with respiratory distress type 2 (SMARD2) is a rare, inherited neuromuscular disorder that affects the motor neurons in the spinal cord and brainstem. It is characterized by progressive muscle weakness and respiratory failure. Symptoms usually begin in infancy and include difficulty breathing, poor muscle tone, and difficulty swallowing. In some cases, the disease can be fatal. Treatment is supportive and may include physical therapy, respiratory support, and nutritional support.

The symptoms of Spinal Muscular Atrophy with Respiratory Distress Type 2 (SMARD2) include:

-Weakness and wasting of the muscles in the arms and legs
-Difficulty breathing
-Weakness of the muscles used for swallowing
-Weakness of the muscles used for speaking
-Loss of reflexes
-Loss of sensation in the arms and legs
-Scoliosis (curvature of the spine)
-Contractures (permanent shortening of muscles and tendons)
-Respiratory failure
-Frequent respiratory infections
-Gastrointestinal problems
-Feeding difficulties
-Delayed development

Spinal muscular atrophy with respiratory distress type 2 (SMARD2) is caused by mutations in the IGHMBP2 gene. This gene provides instructions for making a protein called immunoglobulin-mu-binding protein 2 (IGHMBP2). This protein is involved in the development and maintenance of nerve cells in the spinal cord and brain. Mutations in the IGHMBP2 gene lead to a decrease in the amount of functional IGHMBP2 protein, which impairs the development and maintenance of nerve cells and causes the signs and symptoms of SMARD2.

1. Non-invasive ventilation: Non-invasive ventilation (NIV) is a form of respiratory support that uses a mask or nasal prongs to deliver air to the lungs. It can help reduce the work of breathing and improve oxygen levels in the blood.

2. Physical therapy: Physical therapy can help improve strength, flexibility, and coordination. It can also help with posture and balance.

3. Assistive devices: Assistive devices such as wheelchairs, walkers, and standing frames can help improve mobility and independence.

4. Medications: Medications such as baclofen, diazepam, and amitriptyline can help reduce muscle spasms and improve muscle strength.

5. Surgery: Surgery may be recommended to help improve breathing and reduce the risk of respiratory infections.

6.

1. Genetic mutation in the SMN2 gene
2. Family history of SMA
3. Premature birth
4. Low birth weight
5. Respiratory infections
6. Poor nutrition
7. Exposure to environmental toxins
8. Exposure to certain medications during pregnancy

There is no cure for spinal muscular atrophy with respiratory distress type 2 (SMARD2). However, there are medications that can help manage the symptoms. These include drugs that help improve muscle strength, such as corticosteroids, and drugs that help reduce inflammation, such as non-steroidal anti-inflammatory drugs (NSAIDs). Other treatments, such as physical therapy, can also help improve muscle strength and function.