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Ullrich congenital muscular dystrophy


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Other Names:
Ullrich disease; Ullrich scleroatonic muscular dystrophy; UCMD; Ullrich disease; Ullrich scleroatonic muscular dystrophy; UCMD; Late onset scleroatonic familial myopathy (subtype); Scleroatonic muscular dystrophy See More
Categories:
Congenital and Genetic Diseases; Nervous System Diseases
This disease is grouped under:
Collagen VI related muscular dystrophy ; Congenital muscular dystrophy; Muscular dystrophy, congenital, merosin-positive

Summary Summary


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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]
Last updated: 3/4/2014

Symptoms Symptoms


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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.

Showing of 56 |
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
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Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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 Treatment


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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]
Last updated: 3/4/2014

Prognosis Prognosis


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Ullrich congenital muscular dystrophy is a progressive disorder. Most patients are unable to walk or walk for only a short period of time, usually before puberty. Children may be able to stand and walk with the aid of leg splints.[3]
Last updated: 3/4/2014

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases


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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.

Research Research


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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.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Ullrich congenital muscular dystrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Ullrich congenital muscular dystrophy. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Ullrich congenital muscular dystrophy:
    Congenital Muscle Disease International Registry
     

Organizations Organizations


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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: info@curecmd.org
    Website: https://www.curecmd.org/
  • Muscular Dystrophy Association (MDA)
    222 S Riverside Plaza
    Suite 1500
    Chicago, IL 60606
    Toll-free: 1-833-275-6321 (Helpline)
    E-mail: resourcecenter@mdausa.org
    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: info@musculardystrophyuk.org
    Website: https://www.musculardystrophyuk.org/
Do you know of an organization? We want to hear from you.

Living With Living With


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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.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More


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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

  • Genetics Home Reference (GHR) 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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My brother has Ullrich congenital muscular dystrophy. Is there a cure for this disease? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Ullrich congenital muscular dystrophy. Genetics Home Reference (GHR). October 2010; http://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; http://www.ncbi.nlm.nih.gov/books/NBK1503/. Accessed 3/4/2014.
  3. Eymard B. Congenital muscular dystrophy, Ullrich type. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75840. Accessed 3/4/2014.
Do you know of a review article? We want to hear from you.
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rare disease research!
You can help advance rare disease research!
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