Spinal Muscular Atrophy Awareness Month: Symptoms of SMA, tips to diagnose it

Spinal Muscular Atrophy is a disease that is usually seen in infants and children but can also be seen in adults and it makes the muscles weak and difficult to move against gravity. It is a rare illness that has a genetic origin and is sometimes difficult to diagnose as symptoms can resemble other conditions or medical problems.

Since August is Spinal Muscular Atrophy Awareness Month, we got a few doctors on board to spill the beans on how one can diagnose it. In an interview with HT Lifestyle, Dr Arijit Chattopadhyay, Consultant Paediatric Neurologist at Kolkata’s Apollo Multispecialty and Bhagirathi Neotia, revealed, “The diagnosis of Spinal Muscular Atrophy depends on the age and type of SMA a patient has.”

He added, “After noticing insignificant symptoms like hand tremors, people with adult-onset Spinal Muscular Atrophy, such as type 4, may initiate the diagnosis process with the doctor. To diagnose SMA, your doctor will likely do several things including a detailed family history, physical examination and genetic testing, which is a simple blood test to check for SMA.”

Elaborating upon the same, Dr Jasodhara Chaudhuri, MBBS, MD, MRCPCH UK, DM Neurology and Paediatric Neurologist at Institute of Post Graduate Medical Education and Research (SSKM Hospital) in Kolkata, said, “The first steps in the diagnosis of SMA are usually a physical examination and family history, with some simple tests to distinguish spinal muscular atrophy from similar conditions (such as muscular dystrophy).”

Talking about its early symptoms, he highlighted, “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 fasciculations involuntary twitches) and signs for low motor neuron disease.”

He shared, “Following tests are done to diagnose the condition: genetic test is most typical method of SMA testing. The SMN1 gene is tested for deletion or variation. Another test is an Electromyograph (EMG) test that measures the electrical activity of a muscle or a group of muscles.”

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