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.Treatment
Specific treatment for spinal muscular atrophy will be determined by the physician based on:
the patient’s age, overall health and medical history
severity of the disorder
the type of spinal muscular atrophy
tolerance for specific medications, procedures, or therapies
expectations for the course of the condition
Spinal muscular atrophy is no cure. Early detection is the key to the medical treatment of spinal muscular atrophy.
The goal of treatment is to prevent breathing problems and provide adequate nutritional care to the child since this disease can affect the respiratory muscles and swallowing.
The magnitude of the problem depends on the severity and the presence of other problems that could affect the child. In severe cases, you may need a breathing machine to help the child breathe more easily.
After hospitalization, the team of health care teaches families how to care for the child at home and gives an overview of specific medical problems that require immediate attention by the child’s doctor. A child with spinal muscular atrophy requires frequent medical evaluations throughout his life.