Spinal muscular atrophy I

Contact us
Return to database

Prevalence (%) of clinical parameters based on data from 1 references describing 66 individuals

Add new symptom/sign to this disease

Select symptom from list or write it in the box
Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address

List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Respiratory failure skeletal 100 % 18662980 2015-06-04
Early death multi 100 % 18662980 2015-06-04
Muscle weakness skeletal 100 % 18662980 2015-06-04
Muscle atrophy nervous 100 % 18662980 2015-06-04
Motor neuron degeneration nervous 100 % 18662980 2015-06-04

List of references:

Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
S Rudnik-Schöneborn, R Heller, C Berg, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, K Zerres,

Journal of medical genetics - Oct 2008