🧠 Understanding Spinal Muscular Atrophy (SMA) Type 2

The SKNH
Jun 5
2 min read

🧬 What is SMA Type 2?

Spinal Muscular Atrophy (SMA) Type 2 is a rare genetic neuromuscular disorder that affects the motor neurons in the spinal cord, leading to progressive muscle weakness. It typically onsets between 6 to 18 months of age and affects a child’s ability to sit, crawl, and eventually walk.

SMA Type 2 is less severe than Type 1, but more debilitating than Type 3. Early detection and ongoing care are critical to improving quality of life.

🧪 Causes: The Role of SMN1 Gene

SMA Type 2 is caused by mutations or deletions in the SMN1 gene (Survival Motor Neuron 1), which is responsible for producing a protein essential for motor neuron survival. A deficiency in this protein results in:

Motor neuron degeneration
Muscle atrophy
Loss of physical function

SMA Type 2 is inherited in an autosomal recessive pattern, meaning a child must inherit two defective copies (one from each parent) to be affected.

📊 Clinical Features of SMA Type 2

Symptom/Feature	Description
Age of Onset	6–18 months
Sitting	Possible, but delayed
Walking	Rarely or never achieved
Muscle Weakness	Symmetrical, progressive (mainly legs > arms)
Respiratory Complications	Mild to moderate breathing difficulties
Scoliosis	Common due to weak trunk muscles
Cognitive Development	Typically normal

🩺 Diagnosis and Tests

Early and accurate diagnosis is key. At Sree Krishna Nursing Home (SKNH), we follow a comprehensive diagnostic approach:

Clinical Examination (Delayed milestones, hypotonia)
Electromyography (EMG) and Nerve Conduction Studies
Genetic Testing (SMN1 gene mutation confirmation)
Muscle Biopsy (Rarely needed)

💊 Treatment Options and Ongoing Care

While there is no cure for SMA Type 2, advancements in medical science have introduced disease-modifying therapies:

Treatment Type	Description
Gene Therapy	Zolgensma (for infants below age limit)
SMN2 Splicing Modifiers	Spinraza (Nusinersen) – intrathecal injection
Oral Therapies	Risdiplam (Evrysdi) – improves SMN protein
Supportive Therapies	Physiotherapy, Respiratory care, Nutrition

SKNH provides access to specialized pediatric neurology consultations and long-term physiotherapy programs tailored for SMA children.

🧠 Living with SMA Type 2: Quality of Life

Children with SMA Type 2 can lead meaningful, fulfilling lives with the right medical, physical, and emotional support.

Our Support Services at SKNH Include:

Regular physical and occupational therapy
Customized wheelchair and posture support
Nutritional counseling
Orthopedic management of scoliosis and bone issues
Parent education and emotional counseling

🏥 Why Choose SKNH for Rare Disease Care?

At Sree Krishna Nursing Home (SKNH), we believe every child deserves a chance to grow with dignity and care, regardless of condition rarity. Our integrated care model ensures continuous support for SMA-affected families.

📍 Address: Sree Krishna Nursing Home, Narayangarh, Paschim Medinipur, West Bengal – 721437📞 Phone: 03229-258257 / +91 8327529897🌐 Website: www.sknh.in

📣 Final Note from SKNH

“Awareness is the first step toward hope. Early intervention can make a lasting difference in SMA Type 2. At SKNH, we’re committed to supporting rare disease journeys with care, compassion, and modern expertise.”