The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

+90 850 321 50 00

Spinal Muscular Atrophy Type 1 (Werdnig-Hoffmann)

A genetic disease due to SMN1 gene mutation that presents in infancy with severe muscle weakness and respiratory failure.

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 Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Spinal Muscular Atrophy Type 1 (Werdnig-Hoffmann)?

Spinal muscular atrophy is an autosomal recessive form of motor neuron disease caused by deletion or mutation of the SMN1 gene. Type 1 (Werdnig-Hoffmann) is the most severe form and usually manifests before 6 months of age. Without support, affected infants typically did not survive beyond 2 years of age.

Clinical features in infants include hypotonia, head lag, weak cry, swallowing and feeding difficulty, tongue fasciculations, respiratory failure and developmental motor delay. Cognitive development is generally normal.

Diagnosis is confirmed by SMN1 gene testing. In recent years, gene therapy (onasemnogene abeparvovec, Zolgensma), antisense oligonucleotide (nusinersen, Spinraza) and oral small-molecule (risdiplam) treatments have dramatically improved prognosis. Newborn screening is becoming increasingly widespread.

Symptoms

Hypotonia in infancy ('floppy infant')
Head lag
Weak cry and cough
Swallowing and feeding difficulty
Tongue fasciculations
Paradoxical breathing
Developmental motor delay

Risk Factors

Family history
Consanguineous marriage
SMN1 carrier parents
Autosomal recessive inheritance
Positive newborn screening
Low SMN2 copy number

When to See a Doctor?

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

  • Progressive hypotonia in an infant
  • Delayed head control
  • Feeding and swallowing difficulty
  • Respiratory distress and apnea episodes
  • Family history of SMA for screening

Treatment Methods

01
Molecular analysis of SMN1 gene
02
Gene therapy (onasemnogene abeparvovec)
03
Nusinersen (intrathecal ASO)
04
Risdiplam (oral small molecule)
05
Multidisciplinary support: respiratory, nutrition, physiotherapy
06
Early diagnosis through newborn screening

Which Department to Visit?

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

Learn About Çocuk Sağlığı ve Hastalıkları Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book AppointmentContact Us

Related Health Topics

Other articles from the same department you may want to explore.

Newborn Care

Çocuk Sağlığı ve Hastalıkları

The newborn period is a critical phase that requires attentive care of the umbilical stump, temperature regulation, feeding, monitoring of jaundice and screening tests.

Vaccination Schedule

Çocuk Sağlığı ve Hastalıkları

The Turkish Ministry of Health national vaccination schedule arranges the immunization program from birth to adulthood. Timely and complete vaccination is critical in protecting community immunity.

Jaundice in Infants

Çocuk Sağlığı ve Hastalıkları

Neonatal jaundice (jaundice in newborns) presents as yellowing of the skin and eyes. The vast majority of cases are physiological and are easily treated with phototherapy.

Diarrhoea in Infants

Çocuk Sağlığı ve Hastalıkları

Acute diarrhoea is defined as 3 or more loose stools per day. In infants it is most often caused by viral gastroenteritis (rotavirus, norovirus); dehydration may lead to serious complications.

Fever Management in Children

Çocuk Sağlığı ve Hastalıkları

Fever in children (38°C and above) is the body's defense mechanism against viral or bacterial infection. Most fevers resolve spontaneously in 3-5 days; however, some conditions require urgent medical evaluation.

Cough in Children

Çocuk Sağlığı ve Hastalıkları

Cough is the most common symptom in children and is mostly due to viral upper respiratory infections. Cough lasting more than 3 weeks or with characteristic sounds requires detailed evaluation.

Bronchiolitis

Çocuk Sağlığı ve Hastalıkları

Supportive care with hydration, nasal suctioning, and oxygen if hypoxic is the mainstay; routine bronchodilators, corticosteroids, and antibiotics are not recommended per AAP/NICE guidelines.

Croup (Laryngotracheobronchitis)

Çocuk Sağlığı ve Hastalıkları

Croup is a viral inflammation of the larynx and trachea presenting with a barking cough, hoarseness, and inspiratory stridor. It mostly affects children aged 6 months to 3 years.

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.