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) |
| Exaggerated startle response | 5% |
| Holoprosencephaly | 5% |
| Retinal dysplasia | 5% |
| Agenesis of corpus callosum | - |
| Areflexia | - |
| Atria septal defect | - |
| Autosomal recessive inheritance | - |
| Calf muscle hypertrophy | - |
| Cataract | - |
| Cerebellar cyst | - |
| Cerebellar hypoplasia | - |
| Congenital muscular dystrophy | - |
| Elevated serum creatine phosphokinase | - |
| Encephalocele | - |
| Flexion contracture | - |
| Hydrocephalus | - |
| Hypermetropia | - |
| Hypoplasia of the brainstem | - |
| Hypoplasia of the pyramidal tract | - |
| Infantile onset | - |
| Intellectual disability | - |
| Microphthalmia | - |
| Muscle weakness | - |
| Muscular hypotonia | - |
| Myocardial fibrosis | - |
| Myopia | - |
| Optic atrophy | - |
| Pachygyria | - |
| Polymicrogyria | - |
| Pulmonic stenosis | - |
| Respiratory insufficiency | - |
| Retinal detachment | - |
| Scoliosis | - |
| Seizures | - |
| Skeletal muscle atrophy | - |
| Spinal rigidity | - |
| Strabismus | - |
| Transposition of the great arteries | - |
| Type II lissencephaly | - |
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) 594-4974nuckollg@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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The following diseases are related to Fukuyama type muscular dystrophy. If you have a question about any of these diseases, you can contact GARD.
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