Spinal muscular atrophy (SMA) is a rare inherited condition affecting the spinal cord’s motor neurons, leading to progressive muscle weakness and atrophy. It is a neuromuscular condition that primarily affects infants and young children. There is no cure for this inherited disorder; treatments aim at keeping symptoms at bay and preventing complications in the future. Keep reading to learn more about the causes, symptoms, and treatment options for spinal muscular atrophy.

Causes

Changes in the survival motor neuron trigger SMA. The SMN1 gene is responsible for producing a protein known as survival motor neuron (SMN). Insufficient levels of SMN protein lead to the degeneration and loss of motor neurons, resulting in muscle weakness. SMA is an autosomal recessive disorder, meaning an affected individual inherits two copies of the defective SMN1 gene, one from each parent carrying the mutation.

Warning signs and symptoms

The symptoms of spinal muscular atrophy can vary based on the type and severity of the condition. The main types of SMA include-

1. SMA Type 1 (Werdnig-Hoffmann disease)– It is the most severe form, usually present in infancy. Symptoms may include weak muscle tone (hypotonia), difficulty breathing and swallowing, soft crying, poor motor development, and floppy limbs.
2. SMA Type 2– This form typically manifests in early childhood. Children with SMA type 2 can sit without assistance but may experience difficulties with walking and motor function. Muscle weakness progresses over time.
3. SMA Type 3 (Kugelberg-Welander disease)- Onset occurs in childhood or adolescence. Individuals with this form of SMA can walk independently initially, but as the disease progresses, they may experience muscle weakness, loss of ambulation, and difficulties with activities requiring muscle strength.
4. SMA Type 4– It is the rarest form, with symptoms usually appearing in adulthood. Muscle weakness and motor function impairment may occur, along with walking difficulties.

Treatment

While there is no cure for the condition, treatment options are available to manage symptoms, decrease the condition’s progression, and improve quality of life. Some of the treatment approaches include-

1. Gene replacement therapy– This treatment option involves the delivery of a functional SMN1 gene using viral vectors.
2. Supportive care– Managing symptoms and maintaining overall well-being is essential to SMA treatment. It may involve physical therapy to optimize motor function, respiratory support to aid breathing, occupational therapy to increase independence in daily activities, nutritional support, and assistive devices or mobility aids to enhance mobility.
3. Multidisciplinary care– A team approach involving various healthcare professionals, like neurologists, pulmonologists, physical therapists, occupational therapists, and nutritionists, is crucial for the comprehensive care and management of SMA.

Spinal muscular atrophy is an inherited condition characterized by increasing muscle weakness and atrophy due to the diminishing of motor neurons in the spinal cord. If left untreated, spinal muscular atrophy can lead to life-threatening complications. Early diagnosis, multidisciplinary care, and ongoing support are essential in managing symptoms and optimizing the quality of life for SMA patients. It is necessary to consult a healthcare professional for an accurate diagnosis and personalized treatment suggestions for spinal muscular atrophy or any other health condition.