Spinal muscular atrophy (SMA) is an uncommon genetic condition that affects motor neurons in the spinal cord and makes voluntary muscle movement difficult. People with this disease gradually lose muscle mass and strength, making simple activities like movement, breathing, and other essential tasks challenging. Usually, different types of SMA are based on the age at which symptoms started and their severity. Let’s take a look at the signs, causes, and management options of the disease.

Symptoms
Depending on the type and severity of SMA, the signs can be very different. Some common signs are:

• Muscle weakness
  Progressive muscle weakness is a hallmark of SMA and can range from mild to severe. It affects mobility, posture, and muscle control and may impact different muscle groups. Over time, muscle wasting or atrophy becomes apparent.
• Muscle atrophy
  As the disease progresses, muscle wasting or atrophy becomes noticeable, reducing muscle mass and strength.
• Breathing problems
  In severe cases, SMA can affect the muscles responsible for breathing, leading to respiratory issues and difficulties. Severe cases of SMA can affect the muscles involved in breathing, leading to respiratory problems and potentially life-threatening complications.
• Motor function impairment
  SMA can hinder motor function, causing difficulties with movements such as crawling, walking, and sitting up. Infants and children with SMA may experience problems in activities such as sitting, crawling, and hiking. These motor impairments may progress as the condition advances.
• Swallowing and feeding issues
  Babies and kids with SMA may have trouble swallowing and eating because their mouth and throat muscles are weak.
• Scoliosis and joint contractures
  Individuals with SMA might develop scoliosis (curvature of the spine) and joint contractures due to muscle weakness.

Causes
Changes in the Survival Motor Neuron 1 (SMN1) gene are the leading cause of SMA. This gene produces a protein that is necessary for muscle neurons to work. Mutations in this gene lead to a deficiency in the SMN protein, which affects the survival and function of motor neurons.

The severity of a person’s condition depends on the number of functional SMN2 genes they have. The SMN2 gene produces some SMN protein but is less effective than the SMN1 gene. The fewer functional SMN2 copies a person has, the more severe the symptoms of SMA tend to be. SMA is an autosomal recessive genetic disorder, meaning it occurs due to mutations in both copies of the SMN1 gene. Individuals inherit one copy of the SMN1 gene from each parent. When mutations occur in both copies, it disrupts the production of the SMN protein, leading to dysfunctional motor neurons.

There is a 25% chance that each child will receive two mutated copies of the SMN1 gene from each parent and develop SMA if both parents have a mutation in one copy of the gene but do not have any SMA symptoms. Also, there is a 50% chance that they will become carriers like their parents and a 25% chance that they will not get any altered copies.

The mutations in the SMN1 gene interfere with the average production of the SMN protein. Motor neurons require this protein for their survival and functioning. Insufficient levels of the SMN protein cause the gradual degeneration and loss of motor neurons in the spinal cord and brainstem. As a result, signals from the brain to muscles become compromised, leading to muscle weakness and atrophy, the hallmark symptoms of SMA.

Treatment options
There is no definitive cure for SMA, but there are several treatments and therapies that can help people with the illness deal with their symptoms and live better lives:

• Gene therapy
  Recent advancements in gene therapy, such as FDA-approved treatments, aim to replace or supplement the missing or mutated SMN1 gene to increase SMN protein production.
• Physical and occupational therapy
  Physical therapy programs help maintain mobility, improve muscle strength, and manage symptoms.
• Respiratory support
  Individuals with SMA may require respiratory assistance, such as mechanical ventilation or breathing aids, to manage breathing difficulties.

Remedies and supportive care
Besides medical treatments, supportive care and lifestyle modifications play a crucial role in managing SMA:

• Nutrition support
  Nutritional interventions and feeding strategies help address difficulties with swallowing and nutrition.
• Assistive devices
  Mobility aids, orthopedic devices, and assistive technology support daily activities for individuals with SMA.
• Respiratory support
  Monitoring respiratory function and using respiratory aids or techniques to support breathing.
• Psychological support
  Psychological and emotional support for affected individuals and their families is essential for coping with the challenges of living with SMA.

Conclusion
Spinal Muscular Atrophy remains a challenging condition, with ongoing research aimed at developing new therapies and treatments. Early diagnosis, comprehensive care, and a multidisciplinary approach involving healthcare professionals, caregivers, and affected individuals are crucial for managing SMA and improving outcomes.

Consulting healthcare professionals specializing in SMA is recommended for accurate diagnosis, treatment, and management strategies tailored to individual needs.