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 muscular dystrophy | - |
| Facial palsy | - |
| Failure to thrive | - |
| Feeding difficulties in infancy | - |
| Flexion contracture | - |
| Follicular hyperkeratosis | - |
| Generalized amyotrophy | - |
| High palate | - |
| Hip dislocation | - |
| Hyperextensibility at wrists | - |
| Hyperhidrosis | - |
| Increased laxity of ankles | - |
| Increased laxity of fingers | - |
| Increased variability in muscle fiber diameter | - |
| Infantile onset | - |
| Joint laxity | - |
| Kyphosis | - |
| Mildly elevated creatine phosphokinase | - |
| Motor delay | - |
| Muscle fiber necrosis | - |
| Neonatal hypotonia | - |
| Nocturnal hypoventilation | - |
| Progressive | - |
| Protruding ear | - |
| Proximal muscle weakness | - |
| Recurrent lower respiratory tract infections | - |
| Respiratory insufficiency due to muscle weakness | - |
| Round face | - |
| Scoliosis | - |
| Slender build | - |
| Spinal rigidity | - |
| Talipes equinovarus | - |
| Type 1 muscle fiber predominance | - |
| Variable expressivity | - |
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.
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.
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
Publication Highlights Release of Muscular Dystrophy Action Plan
April 8, 2016
2015 Collagen Gordon Research Conference and Gordon Research Seminar
Sunday, July 12, 2015 -
Friday, July 17, 2015
Location:
New London,
NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.
Contact: Hung Tseng, Ph.D., (301) 496-0810, tsengh@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
New Directions in Biology and Disease of Skeletal Muscle
Sunday, June 29, 2014 -
Wednesday, July 2, 2014
Location:
Chicago,
IL
Description: The goals of the New Directions conference are to: (1) provide a unique forum for presentation and sharing of unpublished data, (2) promote collaboration between industry and academic investigators, (3) provide an interactive forum for clinical trial planning and outcome measure development, (4) facilitate the identification of both common and unique targets for each neuromuscular disease, and (5) provide trainees and young investigators a forum in which to present data and to encourage trainees to remain studying neuromuscular disease.
Contact: Dr. John D. Porter, 301-496-5739,porterjo@ninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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 Ullrich congenital muscular dystrophy. If you have a question about any of these diseases, you can contact GARD.
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My brother has Ullrich congenital muscular dystrophy. Is there a cure for this disease? See answer
