Spinal muscular atrophy (SMA) is a genetic neuromuscular disease that causes muscles to become weak and waste away. According to Cleveland Clinic, people with SMA lose a specific type of nerve cell in the spinal cord called motor neurons that control muscle movement. Without these motor neurons, muscles don’t receive nerve signals that make muscles move. In individuals with SMA, certain muscles become smaller and weaker due to a lack of function. The month of August is dedicated as Spinal Muscular Atrophy Awareness Month.
In an interview with HT Lifestyle, Dr Arijit Chattopadhyay, Consultant Paediatric Neurologist at Kolkata’s Apollo Multispecialty hospital stated that the diagnosis of SMA depends on the age of the patient and the type of SMA.
Symptoms of SMA
Dr Jasodhara Chaudhuri, MBBS, MD, MRCPCH UK, DM Neurology laid down the symptoms of SMA. He highlighted that muscle weakness and hypotonia should be the first signs that raise suspicion for SMA in babies. “Other signs can help to confirm the diagnosis, such as a history of motor difficulties, loss of motor skills, proximal muscle weakness, hyporeflexia (absence of reflexes), tongue fasciculation and signs for low motor neuron disease," Dr Chaudhuri told HT.
Dr Chattopadhyay further explained on how an individual is diagnosed and said that with insignificant symptoms like hand tremors, patients with adult-onset SMA, such as type 4, should consult a doctor for the diagnosis of this genetic disorder. The doctor will take a detailed family history, physical examination and blood and genetic tests for the diagnosis.
Electromyograph (EMG) test that measures the electrical activity of a muscle or a group of muscles is also done to diagnose SMA.
Treatment
As per Cleveland Clinic, there is still no cure for the rare illness. Treatments depend upon the type and its symptoms. The health site said that many people with the disease benefit from physical and occupational therapy and assistive devices such as orthopaedic braces, crutches, walkers and wheelchairs.
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