- 3-methylglutaconic aciduria type 2
- 3-methylglutaconic aciduria type II
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- Cardioskeletal myopathy-neutropenia
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Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia), and muscle weakness (skeletal myopathy), that often leads to delays in development of gross motor skills. Gross motor skills include such activities as crawling, walking, running, jumping, and maintaining balance. Weakness of the facial muscles may lead to unusual facial expressions. In addition, affected infants and children may fail to thrive, and fail to gain weight at the expected rate. Some affected children have mild learning disabilities (although they are usually of normal intelligence), and in many cases, may be prone to recurrent bacterial infections due to low levels of circulating neutrophils in the blood (neutropenia).
In addition to the signs and symptoms previously mentioned, individuals with Barth syndrome have abnormally increased levels of a substance called 3-methylglutaconic acid in their urine and blood. However, there does not appear to be an association between the increased acid levels and the severity of other symptoms and signs associated with Barth syndrome.
The Human Phenotype Ontology provides the following list of signs and symptoms for Barth syndrome. 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.
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.
- Barth Syndrome. NORD. September 17, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract. Accessed 6/3/2011.