Best Doctors For Sma Treatment In Indore

Spinal Muscular Atrophy (SMA) is a severe genetic disease that primarily affects the nervous system, leading to debilitating muscle weakness. It is instigated by a deficiency in a survival motor neuron (SMN) protein, vital for motor neurons' health and function. Most commonly, this deficiency arises due to mutations or deletions in the SMN1 gene found on chromosome 5. While there's no complete cure for SMA, significant advancements have been made, Medications and therapy can significantly improve a patient's quality of life by managing symptoms and slowing disease progression.

In Indore, SMA is not an uncommon sight. Apollo Hospitals employs a dedicated team of the best doctors for spinal muscular atrophy treatment, armed with comprehensive knowledge about this disease. These spinal muscular atrophy specialists are well-equipped to provide effective treatment plans tailored to each patient's specific needs.

Types/Stages of Spinal Muscular Atrophy

The severity and onset of SMA varies, leading to the identification of multiple types:

• SMA Type 0 (severe): Symptoms present at birth with severe muscle weakness and respiratory failure, often leading to death within 6 months.

• SMA Type 1 (infantile): This type manifests before 6 months of age with severe muscle weakness, feeding and breathing difficulties. Without treatment, life expectancy is often less than 2 years.

• SMA Type 2 (intermediate): Symptoms appear between 6-18 months. Patients may be able to sit unaided but cannot stand or walk independently. Respiratory complications are common.

• SMA Type 3 (Kugelberg-Welander disease): Symptoms surface after 18 months. The patient can walk initially but faces progressive muscle weakness, scoliosis and respiratory issues.

• SMA Type 4 (adult): This type begins after age 21, with mild proximal weakness. However, it does not affect the standard life expectancy.

Symptoms of Spinal Muscular Atrophy

The symptoms of this illness display as:

• Progressive muscle weakness and atrophy

• Hypotonia (decreased muscle tone)

• Difficulties in feeding and swallowing

• Respiratory problems

• Skeletal abnormalities

• Developmental delays

Tests to Diagnose Spinal Muscular Atrophy

Spinal muscular atrophy can be diagnosed by specialists through the following tests:

• Genetic testing: This blood test looks for deletions or mutations in the SMN1 gene, which is responsible for SMA.

• Electromyography (EMG): This test measures the electrical activity of the muscles, detecting motor neuron dysfunction.

• Nerve conduction studies: Measures how fast electrical signals move through a nerve, helping in diagnosing SMA.

• Creatine kinase (CK) test: Spinal Muscular Atrophy specialists use a blood test to measure levels of this enzyme, which can be elevated due to muscle damage in SMA.

• Muscle biopsy: Rarely needed, it involves taking a small sample of muscle tissue for analysis.

Treatment or Surgery Options for Spinal Muscular Atrophy at Apollo Hospitals in Indore:

Apollo Hospitals' doctors provide various SMA treatment options:

• Medications: Medications like nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), and risdiplam aim to increase SMN protein levels and slow disease progression.

• Investigational therapies: Emerging approaches like gene replacement, stem cell transplants and small molecule drugs are being examined.

• Physical and Occupational Therapy: This can improve posture, prevent joint immobility and slow muscle weakness and improve your ability to perform daily tasks.

• Supportive care: Includes respiratory support, physical and occupational therapy, and assistive devices for mobility and daily activities.