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An Overview on Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a progressive, neuromuscular, genetic disorder.<br>It affects the motor neurons in the spinal cord and impairs movement.<br>SMA is a genetic disorder that involves a problem with the SMN1 gene<br>The only way an individual can contract SMA is if they inherit this faulty gene from both parents<br>

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An Overview on Spinal Muscular Atrophy

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  1. Understanding Spinal Muscular Atrophy • Spinal Muscular Atrophy (SMA) is a progressive, neuromuscular, genetic disorder. • It affects the motor neurons in the spinal cord and impairs movement. • SMA is a genetic disorder that involves a problem with the SMN1 gene • The only way an individual can contract SMA is if they inherit this faulty gene from both parents

  2. Types of Spinal Muscular Atrophy (SMA) • Type 0: rare, symptoms may manifest before birth or soon after • Type 1: most common, diagnosed within first 6 months of birth • Type 2: diagnosed between 6 months and 18 months • Type 3: diagnosed after 18 months into early adulthood • Type 4: very rare, symptoms manifest in early adulthood

  3. Spinal Muscular Atrophy Symptoms ● Respiratory issues ● Weak/floppy limbs ● Tremors or twitching/shaking muscles ● Movement troubles (cannot crawl, walk, sit up without support) ● Scoliosis ● Chewing and swallowing troubles ● Bone fractures

  4. Spinal Muscular Atrophy Symptoms The symptoms of Type 1 SMA manifest in the first six months of life.These symptoms are:Floppy and weak limbs (hypotonia)Respiratory issuesVery poor motor skillsSwallowing issuesInability to raise head The symptoms of Type 2 SMA manifest in babies when they’re around 7 to 8 months old.They are:HypotoniaTendency to develop scoliosis (curved spine) laterMay be able to sit without support, but cannot stand/walk without supportMay have tremors in fingers and handsRespiratory issues - always at the risk of chest infection due to weak pulmonary muscles

  5. Spinal Muscular Atrophy Symptoms Symptoms of Type 3 SMA manifest as late as after 18 months of age. There have also been cases of the symptoms appearing in later childhood or early adulthood.The symptoms include: • Difficulty in walking or getting up after being in a sitting position • Proprioception and balance problems • Slight tremors in fingers • Inability to climb steps or run • Inability to walk for long periods of time

  6. Spinal Muscular Atrophy Symptoms Type 4 (Adult-onset SMA) Although Type 4 SMA is progressive, it does not lead to respiratory problems and dysphagia in all cases.These symptoms begin in early adulthood. They are: • Hypotonia • Difficulty in walking • Tremors • Twitching muscles

  7. Treatment of Spinal Muscular Atrophy Symptoms Although SMA is a progressive condition, with the right support and treatment, its symptoms can be managed. Early diagnosis and treatment can help improve the quality of life of the patient.Treatment for SMA includes: ● Medication to target the faulty SMN1 gene ● Physiotherapy to help with movement and breathing ● Braces or corrective surgery to treat joint and spine problems ● Feeding tubes ● Stem cell therapy ● Speech therapy ● Occupational therapy

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