All You Need To Know About Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a hereditary sickness influencing the portion of the sensory system that controls the movement of voluntary muscles. The vast majority of the nerve cells that control muscles are situated in the spinal cord, which represents the word spinal given in the name of the ailment. The word muscular represents its main impact on muscles, which don’t get signals from these nerve cells. The word Atrophy is used to represent the decay of muscles when they are inactive. In this disease, there is a loss of nerve cells called motor neurons in the spinal cord and hence it is delegated as a motor neuron sickness.
Decoding Spinal Muscular Atrophy: Causes, Symptoms, and Treatment
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the part of the nervous system controlling voluntary muscle movement. Most nerve cells that control muscles are located in the spinal cord, which is why the word ‘spinal’ is present in the disease’s name. ‘Muscular’ indicates its primary impact on muscles, which can’t receive signals from nerve cells. ‘Atrophy’ signifies the decay of muscles when they’re inactive. In SMA, there’s a loss of motor neurons in the spinal cord, thus classifying it as a motor neuron disease.
Unraveling the Causes of Spinal Muscular Atrophy
SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). This gene produces a protein essential for the survival of motor neurons. Without it, these neurons deteriorate, leading to muscle weakness and atrophy. The disease is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell must have mutations for the condition to develop.
Identifying the Symptoms of Spinal Muscular Atrophy
The symptoms of SMA vary among individuals and according to the type and stage of the disease. Early symptoms may include low muscle tone, delayed motor development, and difficulties feeding and breathing. As the disease progresses, symptoms may include an inability to move, swallow, and in severe cases, breathe.
Understanding Spinraza: A Treatment Option for SMA
Spinraza (nusinersen) is a medication approved for the treatment of SMA in pediatric and adult patients. It works by altering the SMN2 gene to produce more survival motor neuron protein, compensating for the faulty SMN1 gene.
Administering Spinraza: The Procedure
Spinraza is administered directly into the spinal fluid through a procedure known as a lumbar puncture. It is initially given as a loading dose, with four doses in the first two months. After this, a maintenance dose is given every four months.
Handling Irregular Doses of Spinraza
If a dose of Spinraza is missed, it should be administered as soon as possible. It’s crucial to maintain the dosing schedule afterward. In any case of irregular dosing, it is advisable to consult a healthcare professional immediately.
Spinal Muscular Atrophy Treatment in the United States
In the US, apart from Spinraza, other therapies like Zolgensma and Evrysdi have gained FDA approval for treating SMA. Physical and occupational therapies are also integral parts of managing the disease. These therapies, combined with nutritional management and respiratory care, can greatly improve the quality of life of individuals with SMA.
Conclusion
Understanding Spinal Muscular Atrophy - its causes, symptoms, and treatment options - is crucial for those affected by the condition and their caregivers. While it is a severe disorder, advancements in treatment are promising. By staying updated on the latest research and treatments, one can navigate the challenges of SMA effectively.
