The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Congenital hip dislocation||-|
|Generalized muscle weakness||-|
|Skeletal muscle atrophy||-|
|Type 1 muscle fiber predominance||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My granddaughter has CCD. I believe I have it as well. I have read that CCD does not worsen with time, however my muscle weakness has worsened. I am limited in movement without assistance or a walker. So, what is to be expected? See answer
After 34 years of living with central core disease, I just found out the name of this condition one month ago. My lower back doesn't seem to work, and I wonder if I will ever be able to walk up stairs or run. What type of treatment do I need? See answer