Best Sma Doctors in Mysore

Spinal Muscular Atrophy (SMA) is a rare genetic neuromuscular disorder characterised by the progressive degeneration of motor neurons in the spinal cord and lower brainstem, leading to advancing muscle weakness and atrophy. The disease is caused by a genetic defect in the Survival Motor Neuron (SMN) gene, which is crucial for the function and survival of motor neurons. When this gene is defective, it results in the degeneration and loss of motor neurons, leading to SMA.

In Mysore, Apollo Hospitals brings top-notch medical services to those grappling with this challenging disease. The presence of well-trained doctors and specialists treating spinal muscular atrophy offers a glimmer of hope for patients and their families dealing with SMA.

Types of SMA

Spinal muscular atrophy manifests in various types depending on the age of onset and severity of symptoms:

• Type 1 (Werdnig-Hoffmann disease): The onset occurs before 6 months of age, resulting in severe muscle weakness and respiratory failure.

• Type 2: This begins between 6 and 18 months of age and the affected children can sit unaided but cannot stand or walk independently.

• Type 3 (Kugelberg-Welander disease): The onset is after 18 months of age. These patients can initially stand and walk independently but may lose this ability gradually.

• Type 4: The onset during adulthood, featuring milder symptoms and slower progression.

Symptoms of SMA

Spinal muscular atrophy presents with a range of symptoms that include:

• Weakness and atrophy in proximal muscles such as shoulders, hips, and trunk

• Difficulty swallowing and breathing

• Impaired motor skills and delayed motor milestones

• Development of scoliosis and joint contractures

• Respiratory problems that can escalate to respiratory failure in severe cases

Tests to Diagnose SMA

To ascertain a spinal muscular atrophy diagnosis, various tests are employed by doctors and specialists treating spinal muscular atrophy:

• Genetic Testing: This test identifies mutations or deletions in the SMN gene.

• Electromyography (EMG): EMG assesses the electrical activity of muscles and the nerve cells that control them.

• Nerve Conduction Studies: These tests measure the speed and strength of electrical signals as they travel along nerves.

• Muscle Biopsy: A small sample of muscle tissue is removed and examined under a microscope to evaluate muscle health and rule out other neuromuscular disorders.

• Blood Tests: These tests assess overall health, including checking for markers of muscle damage and monitoring organ function.

Treatment or Surgery Options for SMA at Apollo Hospitals, Mysore

With the best doctors and surgeons for spinal muscular atrophy treatment available at Apollo Hospitals in Mysore, patients can be assured of comprehensive treatment options that can help manage symptoms and improve their quality of life:

• Supportive care: This includes physical therapy, occupational therapy, respiratory support, and nutritional management. Assistive devices like braces, walkers, and wheelchairs may also be used.

• Medication: Drugs like Nusinersen (Spinraza) and Risdiplam (Evrysdi) that aim to increase SMN protein levels are available. Onasemnogene abeparvovec (Zolgensma) offers a one-time gene therapy treatment for SMA.

• Surgical options: Procedures such as spinal fusion surgery for scoliosis correction, tracheostomy, or non-invasive ventilation may be considered to assist with breathing difficulties.

• Monitoring and management: This includes regular monitoring of respiratory function, nutritional status, and overall health to manage complications and optimise care.