INFORMATION ON SPINAL MUSCULAR ATROPHY

Spinal muscular atrophy is a rare, inherited progressive neuromuscular disorder of infancy characterized by degeneration of groups of nerve cells called “motor nuclei” within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells). Spinal muscular atrophy is one of the types of spinal muscular atrophy.

CAUSES OF SPINAL MUSCULAR ATROPHY

The only and the main factor which a lead to the development of Spinal muscular atrophy is inherited defective gene from parents.

SYMPTOMS OF SPINAL MUSCULAR ATROPHY

1. Abnormal breathing.
2. Weakness of muscles.
3. Swalloing difficulty.
4. Sucking problem.
5. Twitching of the tongue.
6. Uncontrolled eye movement.
7. Respiratory infection.
8. Floppy infant
9. Very weak infant
10. Little spontaneous movement
11. Lack of head control
12. Nasal speech
13. Worsening posture

DIAGNOSIS OF SPINAL MUSCULAR ATROPHY

Clinically Spinal muscular atrophy can be identified by:-

1. Muscle biopsy.
2. Electromyography.
3. MRI of the spine
4. DNA testing to confirm diagnosis

TREATMENT OF SPINAL MUSCULAR ATROPHY

So far there is no treatment for Spinal muscular atrophy and progressive weakness caused by the Spinal muscular atrophy. Supportive and symptomatic care is very much important. However attention must be paid to the respiratory system, because affected people have clearing secretions difficulty. Respiratory complications are common.
Physiotherapy by a professional physiotherapist is important to prevent contractures and scoliosis. After some period of time bracing may be necessary.