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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spinal muscular atrophy type 2


Other Names for this Disease
  • Chronic infantile spinal muscular atrophy
  • Chronic spinal muscular atrophy
  • Dubowitz disease
  • Intermediate spinal muscular atrophy
  • Muscular atrophy, spinal, infantile chronic form
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Spinal muscular atrophy type 2?

The signs and symptoms of spinal muscular atrophy type 2 (SMA II) typically become apparent between 6 and 12 months of age, although poor muscle tone may be noticed at birth or within the first few months of life. Affected children may slowly gain some motor milestones initially. However, the highest motor milestone attained is generally the ability to sit independently and this milestone is often lost by the mid-teens. People with SMA II are not able to stand or walk unaided. Other signs and symptoms may include a tremor of the fingers, breathing issues, feeding difficulties and skeletal abnormalities (such as scoliosis and hip dislocation).[1]

For information about the signs and symptoms of spinal muscular atrophy in general, click here.
Last updated: 3/24/2015

The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal muscular atrophy type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Autosomal recessive inheritance -
Degeneration of anterior horn cells -
EMG abnormality -
Hand tremor -
Muscle weakness -
Recurrent respiratory infections -
Spinal muscular atrophy -
Tongue fasciculations -

Last updated: 8/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Thomas W Prior, PhD, FACMG and Barry S Russman, MD. Spinal Muscular Atrophy. GeneReviews. November 2013; http://www.ncbi.nlm.nih.gov/books/NBK1352/.
  2. Tsao B. Spinal Muscular Atrophy. Medscape. May 2013; http://emedicine.medscape.com/article/1181436-overview. Accessed 4/6/2015.


Other Names for this Disease
  • Chronic infantile spinal muscular atrophy
  • Chronic spinal muscular atrophy
  • Dubowitz disease
  • Intermediate spinal muscular atrophy
  • Muscular atrophy, spinal, infantile chronic form
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.