Spinal Muscular Atrophy
Spinal Muscular Atrophy: Diagnosis and Treatment
Diagnosis
The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and diagnostic tests. During the physical exam, your child’s physician will obtain a complete medical history and possibly the child asked if a family history of any medical problems.
To confirm the diagnosis of spinal muscular atrophy may be the following tests:
* blood counts
* muscle biopsy – removing a small sample of muscle tissue and examined to determine and confirm a diagnosis or condition.
* genetic tests – diagnostic tests that evaluate for conditions that are prone families.
* electromyography (EMG) – a test that measures the electrical activity of a muscle or group of muscles. An EMG can detect abnormal electrical activity of a muscle due to diseases and neuromuscular disorders. Read the rest of this entry »
Symptoms of Spinal Muscular Atrophy
Spinal muscular atrophy is often difficult to diagnose because symptoms may resemble other conditions or medical problems. Each child may experience symptoms differently. There are four types of spinal muscular atrophy based on symptoms and age of onset. The child may experience the following symptoms:
- Type I (also called Werdnig-Hoffman)
This is the most severe type of SMA and may be present at birth. Babies have difficulty holding their head, sucking, feeding, swallowing, and typically move very little. The chest muscles are also affected. Motion of the tongue with wave motions. Usually die within 2 to 6 years old because of respiratory problems. Read the rest of this entry »
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Spinal Muscular Atrophy
Spinal muscular atrophy (the acronym is SMA) is a degenerative problem that affects the spinal cord and nerves, resulting in muscle weakness and atrophy.
Causes
SMA is an autosomal recessive disorder, which means it can equally affect both men and women and it takes two copies of the gene, one inherited from each parent, to develop the disorder.
It was discovered that a gene called survival motor neuron (the acronym is SMN) have an abnormal area (either through deletion or extra copy of a gene) in over 95 percent of cases of SMA. You can evaluate symptomatic persons of all ages through DNA studies that are done from blood samples. Read the rest of this entry »