Best Sma Doctors in Lucknow

Spinal Muscular Atrophy (SMA) is a rare genetic neuromuscular disorder characterised by the progressive loss of motor neurons in the spinal cord and lower brain stem. This loss results in muscle weakness, wasting, and potentially paralysis, significantly impairing the ability to perform basic tasks such as sitting, standing, or eating. It is a genetic disease, passed on from parents to their children through a defective survival motor neuron (SMN) gene.

In Lucknow, the residents battling with this debilitating condition can find solace in Apollo Hospitals. Our specialists in SMA are some of the best doctors for spinal muscular atrophy treatment in Lucknow who have extensive experience in diagnosing and managing this neuromuscular disorder.

Types of SMA

SMA is classified into different types based on the age of onset and severity of symptoms:

• Type 1 (Werdnig-Hoffmann disease): Symptoms appear before six months of age. It is the most severe form with profound muscle weakness, difficulty swallowing and respiratory failure.

• Type 2: Symptoms develop between 6 and 18 months of age. Children can typically sit without support but cannot stand or walk independently.

• Type 3 (Kugelberg-Welander disease): Symptoms appear after 18 months of age, often in childhood or adolescence. Patients can stand and walk independently but may lose this ability over time.

• Type 4: The onset of symptoms is during adulthood, typically after the age of 30.

  This is the mildest form of SMA, with symptoms that progress slowly.

Symptoms of SMA

The symptoms of SMA greatly depend on the type and stage of the disease:

• Muscle weakness and atrophy, particularly in the proximal muscles (shoulders, hips, and trunk)

• Difficulty swallowing and breathing

• Impaired motor skills and delayed motor milestones

• Development of scoliosis and joint contractures

• Respiratory problems and respiratory failure in severe cases

• Poor muscle tone (particularly in infants)

Tests to Diagnose SMA

The doctors and specialists for spinal muscular atrophy at Apollo Hospitals in Lucknow utilise a range of tests, to accurately diagnose the condition:

• Genetic Testing: This test identifies mutations in the SMN gene to confirm the diagnosis of SMA.

• Electromyography: This test measures the electrical activity of muscles in response to nerve stimulation, helping to identify abnormal muscle function.

• Nerve Conduction Velocity: This test evaluates the speed and strength of electrical signals travelling through the nerves, which can help pinpoint nerve damage.

• Muscle Biopsy: A small sample of muscle tissue is removed and examined under a microscope to assess muscle abnormalities typical of SMA.

• Pulmonary Function Tests: These tests evaluate lung function and respiratory capacity to identify respiratory muscle weakness.

Treatment or Surgery Options for SMA at Apollo Hospitals, Lucknow

At Apollo Hospitals in Lucknow, our doctors specialising in SMA treatment and surgeons treating spinal muscular atrophy offer holistic care for patients with SMA, tailored to their specific needs. The following treatment options are available:

• Supportive Care: This includes physical therapy, occupational therapy, and respiratory support to help manage symptoms. Assistive devices like braces, walkers, and wheelchairs are provided to improve mobility and independence.

• Medication: FDA-approved medications like Nusinersen (Spinraza), Risdiplam (Evrysdi), and gene therapy treatment Onasemnogene abeparvovec (Zolgensma) are administered to increase SMN protein levels.

• Nutritional Support: Dietary adjustments are implemented to manage feeding difficulties.

• Surgical Options: Surgeries such as spinal fusion for scoliosis correction or tracheostomy for breathing assistance may be recommended based on the patient's condition.

• Speech and Swallowing Therapy: Techniques and exercises are provided to improve speech clarity and swallowing function, which can be affected in some cases of SMA.