Select a Country or Region

Click here to request for genetic test

SIGNS AND SYMPTOMS

IN CHILDREN

Spinal muscular atrophy (SMA) is a single-gene disease with a spectrum of clinical presentation,1,2 which may differ according to type, age of onset and severity.2,3

The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.

SPINAL MUSCULAR ATROPHY IN INFANTS & CHILDREN

People diagnosed with SMA have normal sensory perception, as SMA affects the motor cells in the body not the sensory nerves.3

In children with spinal muscular atrophy, degeneration of motor neurons in the spinal cord results in skeletal muscular atrophy and weakness commonly involving the limbs, with the bulbar and respiratory muscles being more variably affected.4,5

SYMPTOMS IN INFANTS:3

  • Breathing difficulties
  • Feeding difficulties
  • Floppy infant (poor muscle tone)
  • Lack of head control
  • Little movement
  • Weakness that gets worse

SYMPTOMS IN CHILDREN:3

  • Frequent, increasingly severe respiratory infections
  • Nasal speech
  • Posture that worsens

Click here to request for genetic test

Diagnostic delay is common in spinal muscular atrophy.8 Find out more about the diagnosis of SMA in children.

Diagnosing SMA in Children
SMA Diagnosis
Signs and Symptoms in Adults

STAY UP TO DATE

Learn more about Biogen's participation to major events within Neurology.

Events

The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.

References

1. Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: URL: https://www.ncbi.nlm.nih.gov/books/.

2. Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscl Disord 2018;28(2):103-115.

3. MedlinePlus. Medical Encyclopedia. Spinal muscular atrophy. [online] [cited 2020 Sep 30]. Available from: URL: https://medlineplus.gov/ency/article/000996.htm.

4. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008;371(9630):21‌20-21‌33.

5. Darras BT, Royden Jones H Jr, Ryan MM, De Vivo DC, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. London, UK: Elsevier; 2015.

6. Wang CH, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049.

7. Genetics Home Reference. SMN1 gene. 2012. Available at: https://ghr.nlm.nih.gov/gene/SMN1. Accessed January 9, 2017.

8. Lin, Kalb and Yeh. Delay in diagnosis of spinal muscular atrophy: A systematic literature review. Pediatr Neurol. 2015; 53(4):293-300 Available at: https://pubmed.ncbi.nlm.nih.gov/26260993/.