A genetic disorder that hampers the functioning of your overall motor and muscle skills is known as Spinal Muscular Atrophy. The most common signs of this problem starts off with muscle weakness that is followed with trouble maintaining good posture, using your muscles for controlled movements and there is also pain and swelling. Breathing problems also follow suit.
HOW IS SPINAL MUSCULAR ATROPHY DIAGNOSED?
A neurologist diagnosis this condition by the following tests:
• Erythrocyte sedimentation rate (ESR)
• CPK levels
• DNA testing to confirm diagnosis
• Electromyography (EMG)
• MRI of the spine
• Muscle biopsy
• Nerve conduction
• Serum amino acids
• Thyroid-stimulating hormone (TSH)
HOW IS SPINAL MUSCULAR ATROPHY TREATED?
The management of children with spinal muscular atrophy starts with the diagnosis and classification into 1 of the 5 categories. Health issues specific to spinal muscular atrophy are as follows:
• Pulmonary management: Children with SMA1 can survive beyond 2 years of age when offered tracheostomy or noninvasive respiratory support.
• An intermittent positive-pressure breathing device (mechanical in-exsufflator) has proven effective.
• Nutrition: Bulbar dysfunction is universal in SMA1 patients. Early gastrostomy should be considered as part of the management of such patients.
• Scoliosis: Scoliosis is a major problem in most SMA2 patients and in half of SMA3 patients.
DID YOU KNOW?
Genetic counseling is recommended for people with a family history of spinal muscular atrophy who want to have children.