Spinal Muscular Atrophy Diagnosis and Tests
1. Clinical Tests for Spinal Muscular Atrophy
The initial step in diagnosing SMA begins with parental concerns about their children’s strength and gross motor abilities. These concerns usually occur early in life in children with SMA Type I and II, where as children with SMA III may not show any clinical symptoms for many years. It is important that a physician knowledgeable about pediatric neuromuscular diseases examine these youngsters. Many other neuromuscular diseases can present with clinical symptoms identical to those expressed by children with SMA. Some of these alternative diagnoses required different diagnostic tests and may warrant different forms of treatment. Typically, the child with SMA Type I and II will exhibit his or her most dramatic weakness in the proximal muscles of the legs and arms. A quivering tongue (fasciculations of the motor units in the tongue muscle), is a very important clinical sign and often guides the physician to the diagnosis of SMA. Most children with SMA lose their deep tendon reflexes (the reflexes physicians check when they strike the knees or ankles with a rubber hammer). Sensation is normal and children always appreciate feelings like tickling and light touch. Although the clinical examination is critically important, the fact that other neuromuscular disease can present with the same symptoms and show some of the same physical features makes additional diagnostic testing necessary. Often the physician will order a blood test such as a muscle enzyme test (creatine kinase – CPK), to distinguish SMA and Muscular Dystrophy. Most children with muscular dystrophy have very high CPK levels, where as children with SMA have normal or only slightly elevated CPK levels.
2. Electromyography Testing (EMG) for Spinal Muscular Atrophy
3. Muscle Biopsy Tests for Spinal Muscular Atrophy
4. Genetic Testing for Spinal Muscular Atrophy
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