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Spinal Muscular Atrophy

An inherited neuromuscular disease causing progressive loss of motor neurons in the spinal cord.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

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?

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease in which the anterior horn motor neurons of the spinal cord progressively degenerate due to mutations in the SMN1 gene.

SMA is classified from Type 1 to Type 4 based on age of onset and severity. Type 1 (Werdnig-Hoffmann) is the most severe form, presenting with serious respiratory difficulty in the first months of life. Types 3 and 4 follow a milder course.

Recent therapies such as nusinersen, risdiplam, and onasemnogene abeparvovec have favorably altered the natural history of the disease; early diagnosis is critical for treatment effectiveness.

Symptoms

Hypotonia in infants ('floppy infant')
Delay or loss of motor developmental milestones
Muscle weakness and wasting (atrophy)
Weakness of respiratory muscles
Swallowing difficulty
Fasciculations on the tongue

Risk Factors

SMN1 gene carrier status in both parents
Family history of SMA
Low SMN2 copy number (associated with severe course)
Positive newborn screening
Autosomal recessive inheritance

When to See a Doctor?

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

  • Hypotonia or motor delay in an infant
  • Feeding problems with sucking and swallowing difficulty
  • Respiratory difficulty or weakened cough reflex
  • Genetic counseling for families with SMA history

Treatment Methods

01
SMN2 splicing modification: nusinersen (intrathecal) or risdiplam (oral)
02
Gene therapy: onasemnogene abeparvovec (single IV dose)
03
Respiratory support (non-invasive ventilation may be needed)
04
Nutritional support and nasogastric or gastrostomy feeding
05
Physiotherapy, occupational therapy, and orthopedic follow-up

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.