Spinal Muscular Atrophy (SMA) is a rare genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. In Singapore, awareness of SMA is growing, and understanding its symptoms, diagnosis, and treatment options is crucial for those affected and their families.
What Is Spinal Muscular Atrophy?
Spinal Muscular Atrophy is a genetic condition that impairs the ability of motor neurons to function and survive. This leads to progressive muscle weakness and wasting, which can affect various muscle groups in the body. SMA is classified into different types based on the age of onset and the severity of symptoms, with the most common being Type 1, Type 2, and Type 3.
Symptoms Of Spinal Muscular Atrophy
The symptoms of SMA can vary depending on the type and severity of the condition. Common signs to watch for include:
- Severe muscle weakness.
- Difficulty swallowing or breathing.
- Muscle twitching.
- Movement problems.
Diagnosis Of Spinal Muscular Atrophy
Diagnosing SMA involves a combination of clinical evaluation and genetic testing. In Singapore, the following steps are typically taken:
- Clinical Assessment – A healthcare provider will review the patient’s medical history and conduct a physical examination to identify signs of muscle weakness and atrophy. This may involve assessing motor function and developmental milestones in children.
- Genetic Testing – To confirm a diagnosis of SMA, a genetic test is performed to identify mutations in the SMN1 (Survival Motor Neuron 1) gene, which is responsible for the condition. This test is usually done through a blood sample.
- Electromyography (EMG) – An EMG may be used to assess the electrical activity in the muscles and nerves. While not definitive for SMA, it can help rule out other neuromuscular disorders.
- Muscle Biopsy – In some cases, a muscle biopsy might be performed to examine muscle tissue and rule out other conditions. However, genetic testing remains the gold standard for SMA diagnosis.
Treatment Options In Singapore
While there is currently no cure for SMA, treatment options are available to manage symptoms and improve quality of life. Treatment approaches may include:
- Medications – Several medications, such as nusinersen (Spinraza) and onasemnogene abeparvovec (Zolgensma), have been approved for SMA treatment. These drugs aim to increase the production of the SMN protein, which is deficient in SMA patients.
- Physical Therapy – Physical therapy can help maintain muscle strength, improve mobility, and manage muscle contractures. A tailored exercise program is essential for maintaining overall function.
- Respiratory Support – For individuals with severe SMA, respiratory support may be necessary. This can include non-invasive ventilation or other breathing aids.
- Nutritional Support – Maintaining proper nutrition is crucial, especially if swallowing difficulties are present. A dietitian can provide guidance on ensuring adequate nutrition.
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This article is informative only and is not intended to be a substitute for professional medical advice, diagnosis, or treatment, and should never be relied upon for specific medical advice.
