Spinal Muscular Atrophy is an autosomal recessive rare neuromuscular disorder that is characterized by loss of motor neurons and progressive muscle wasting. Spinal Muscular Atrophy usually results in early death. Symptoms of Spinal Muscular Atrophy are:
• Areflexia in extremes
• Overall muscle weakness
• Poor muscle tone
• Tendency to flop
• Difficulty in achieving developmental milestones
• Weak cough
• Loss of strength of respiratory muscles
• Bell shaped torso
• Twitching of the tongue
• Poor feeding
• Difficulty in swallowing
HOW IS SPINAL MUSCULAR ATROPHY DIAGNOSED?
A diagnosis usually comes only after the child undergoes several tests that rule out other diseases that cause similar symptoms. These tests usually include:
• nerve conduction tests, such as an electromyogram (EMG)
• computed tomography (CT) scan
• magnetic resonance imaging (MRI)
• muscle tissue biopsy
HOW IS SPINAL MUSCULAR ATROPHY TREATED?
There is no treatment for the weakness caused by the disease. Supportive care is important. Attention must be paid to the respiratory system because affected people have trouble protecting themselves from choking. Breathing complications are common.
Physical therapy is important to prevent contractions of muscles and tendons and abnormal curvature of the spine. Bracing may be needed.
DID YOU KNOW?
Spinal Muscular Atrophy runs in families, parents may not have symptoms but carry the genes.