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Disease Profile

Ullrich congenital muscular dystrophy

Prevalence
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

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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Not applicable

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Other names (AKA)

Ullrich disease; Ullrich scleroatonic muscular dystrophy; UCMD;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. In rare cases, this condition may be inherited in an autosomal dominant pattern.[1]

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 tissue
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 contracture
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 hypotonia
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
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Pes valgus
0008081
Respiratory failure
0002878
Scoliosis
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
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Congenital muscular dystrophy
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
Variable expressivity
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

    Physical therapy, including early mobilization, regular stretching and splinting, is the main focus of supportive care. Respiratory support and night-time ventilation often becomes necessary in the first or second decade of life. Prevention of chest infections may be achieved with the use of antibiotics. Feeding difficulties leading to failure to thrive may be managed by gastrostomy. Surgery may be needed for contractures and scoliosis.[2][3] Some reports indicate that people with Ullrich congenital muscular dystrophy may may benefit from cyclosporin A. More studies into the benefits of this therapy are needed.[3]

    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

      Organizations Providing General Support

        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

            1. Ullrich congenital muscular dystrophy. Genetics Home Reference (GHR). October 2010; https://ghr.nlm.nih.gov/condition/ullrich-congenital-muscular-dystrophy. Accessed 3/4/2014.
            2. 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.
            3. 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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