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)|
|Neurological speech impairment||90%|
|Abnormality of the voice||50%|
|Aplasia/Hypoplasia of the cerebellum||7.5%|
|Autosomal recessive inheritance||-|
|Decreased light- and dark-adapted electroretinogram amplitude||-|
|Elevated serum creatine phosphokinase||-|
|Enlarged flash visual evoked potentials||-|
|Everted lower lip vermilion||-|
|Generalized muscle weakness||-|
|Hypoplasia of the brainstem||-|
|Hypoplasia of the retina||-|
|Intellectual disability, profound||-|
|Intellectual disability, severe||-|
|Opacification of the corneal stroma||-|
|Severe global developmental delay||-|
|Severe muscular hypotonia||-|
|Short nasal bridge||-|
|Type II lissencephaly||-|
|Uncontrolled eye movements||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Congenital Muscular Dystrophy: From Clinical Pathology to Underlying Scientific Mechanisms, Exploring the Role of the Myomatrix
Sunday, April 22, 2012 -
Tuesday, April 24, 2012
Location: University of Nevada School of Medicine, Center for Molecular Medicine, Reno, NV
Description: The goals of the conference are to: 1) Establish the current state of knowledge in different myomatrix research areas germane to the CMDs and to dystrophic pathology, 2) Explore novel mechanisms, intersections and crosstalk of relevant mechanisms and perform comparative analysis across disease models, 3) Design effective strategies and platforms to pursue treatment development for key aspects of CMD clinical pathology to drive future translational opportunities
Contact: Dr. Glen Nuckolls, NIAMS(301) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
The following diseases are related to Muscle eye brain disease. If you have a question about any of these diseases, you can contact GARD.
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My 3-year-old granddaughter has been diagnosed with muscle eye brain disease. Can you provide general information on this disease and what to expect in the future? See answer