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Spinal Muscular Atrophy (SMA)

Genetic motor neuron disease causing progressive muscle weakness, with novel disease-modifying therapies.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Spinal Muscular Atrophy (SMA)?

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by homozygous deletion or mutation of the SMN1 gene, leading to progressive degeneration of anterior horn motor neurons and muscle weakness. SMN2 copy number modifies severity.

Clinical types range from severe infantile (Type 1 / Werdnig-Hoffmann) presenting with hypotonia and respiratory failure, to milder adult-onset forms (Type 4). Newborn screening enables presymptomatic diagnosis and dramatically improved outcomes with early treatment.

Three disease-modifying therapies have transformed prognosis: nusinersen (intrathecal antisense oligonucleotide), onasemnogene abeparvovec (gene therapy), and risdiplam (oral SMN2 splicing modifier). Multidisciplinary care addresses respiratory, nutritional, and orthopedic needs.

Symptoms

Progressive muscle weakness
Hypotonia in infants (floppy baby)
Tongue fasciculations
Loss of motor milestones
Respiratory difficulty
Feeding and swallowing problems
Scoliosis and joint contractures

Risk Factors

Autosomal recessive inheritance
Both parents being SMN1 carriers
Family history of SMA
Consanguinity
Carrier frequency 1:40-50 in population
Low SMN2 copy number (more severe)
Delayed diagnosis

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Floppy infant with weakness
  • Loss of motor milestones
  • Family history of SMA
  • Carrier screening pre-pregnancy
  • Need for newborn screening confirmation
  • Progressive adult-onset weakness

Treatment Methods

01
Nusinersen (Spinraza) intrathecal therapy
02
Onasemnogene abeparvovec (Zolgensma) gene therapy
03
Risdiplam (Evrysdi) oral therapy
04
Multidisciplinary respiratory and nutritional support
05
Physical and occupational therapy
06
Scoliosis and orthopedic management
07
Genetic counseling for family

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.