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Disease Profile
Ullrich congenital muscular dystrophy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
G71.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Ullrich disease; Ullrich scleroatonic muscular dystrophy; UCMD;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Ullrich
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
EMG: myopathic abnormalities | 0003458 | |
Generalized muscle weakness | 0003324 | |
Hyperextensibility at wrists |
Increased wrist mobility
|
0005072 |
Increased endomysial connective |
0100297 | |
Increased laxity of fingers | 0006149 | |
Increased variability in muscle fiber diameter | 0003557 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Spinal rigidity |
Reduced spine movement
|
0003306 |
30%-79% of people have these symptoms | ||
Adducted thumb |
Inward turned thumb
|
0001181 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Diaphragmatic weakness |
Weak diaphragm
|
0009113 |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] |
0002987 |
Esotropia |
Inward turning cross eyed
|
0000565 |
Frequent falls | 0002359 | |
Generalized amyotrophy |
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ] |
0003700 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Knee flexion contracture | 0006380 | |
Long toe |
Increased length of toes
Long toes
[ more ] |
0010511 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Pes valgus | 0008081 | |
Respiratory failure | 0002878 | |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
Slender finger |
Narrow fingers
Slender fingers
thin fingers
[ more ] |
0001238 |
Torticollis |
Wry neck
|
0000473 |
1%-4% of people have these symptoms | ||
Reduced muscle collagen VI | 0030095 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
0000007 | ||
0003741 | ||
Facial palsy |
Bell's palsy
|
0010628 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties in infancy | 0008872 | |
Flexion contracture |
Flexed joint that cannot be straightened
|
0001371 |
Follicular hyperkeratosis | 0007502 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Increased laxity of ankles | 0006460 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Mildly elevated creatine kinase | 0008180 | |
Motor delay | 0001270 | |
Muscle fiber necrosis | 0003713 | |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Nocturnal hypoventilation | 0002877 | |
Progressive |
Worsens with time
|
0003676 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
Recurrent lower respiratory tract infections |
Recurrent chest infections
|
0002783 |
Respiratory insufficiency due to muscle weakness |
Decreased lung function due to weak breathing muscles
|
0002747 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ] |
0000311 |
Slender build |
Thin build
|
0001533 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Type 1 muscle fiber predominance | 0003803 | |
0003828 |
Diagnosis
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.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
In the neonatal period, the differential diagnoses include Bethlem myopathy and other forms of congenitalmuscular dystrophy (CMD) and myopathy, spinal muscular atrophy, forms of Ehlers-Danlos syndrome, and Marfan syndrome (see these terms). Some CMD subtypes such as merosin-deficient congenital muscular dystrophy (MDC1A), Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama CMD (see these terms) should also be considered, although in these disorders intellectual deficit is a major symptom.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Cure CMD Congenital Muscular Dystrophy
19401 S. Vermont Ave., Suite J100
Torrance, CA 90502
Telephone: 323-250-2399 or 424-265-0874
E-mail: [email protected]
Website: https://www.curecmd.org/
Organizations Providing General Support
-
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: [email protected]
Website: https://www.mda.org -
Muscular Dystrophy UK
61A Great Suffolk Street
London, SE1 0BU United Kingdom
Toll-free: 0800 652 6352 (Helpline)
Telephone: (+44) 0 020 7803 4800
E-mail: [email protected]
Website: https://www.musculardystrophyuk.org/
Learn more
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.
Where to Start
- MedlinePlus Genetics contains information on Ullrich congenital muscular dystrophy. This website is maintained by the National Library of Medicine.
- The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Ullrich congenital muscular dystrophy. Click on the link to view a sample search on this topic.
References
- Ullrich congenital muscular dystrophy. Genetics Home Reference (GHR). October 2010; https://ghr.nlm.nih.gov/condition/ullrich-congenital-muscular-dystrophy. Accessed 3/4/2014.
- Lampe AK, Flanigan KM, Bushby KM, Hicks D. Collagen Type VI-Related Disorders. GeneReviews. August 9, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1503/. Accessed 3/4/2014.
- Eymard B. Congenital muscular dystrophy, Ullrich type. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75840. Accessed 3/4/2014.
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