Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many types of limb-girdle muscular dystrophy. These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles. Specifically, LGMD1B causes muscle weakness in the lower limbs. The muscle weakness typically affects the muscles closest to the center of the body (proximal muscles) such as the upper legs. The disease is progressive, leading to a loss of muscle strength and bulk over a number of years.
Limb-girdle muscular dystrophy type 1B is caused by
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||
|80%-99% of people have these symptoms|
|Fatiguable weakness of proximal limb muscles||0030200|
|30%-79% of people have these symptoms|
|Abnormal atrioventricular conduction||0005150|
Quivering upper heart chambers resulting in irregular heartbeat
|Elevated serum creatine phosphokinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
|Limb-girdle muscle atrophy||
Wasting of limb-girdle muscle
|Proximal muscle weakness in upper limbs||0008997|
|Sudden cardiac death||
Premature sudden cardiac death
|5%-29% of people have these symptoms|
|Achilles tendon contracture||
Shortening of the achilles tendon
Tight achilles tendon[ more ]
Difficulty in walking
Stretched and thinned heart muscle
|Elbow flexion contracture||
Contractures of elbows
Elbow contractures[ more ]
Poor feeding[ more ]
Decreased muscle tone
Low muscle tone[ more ]
Low muscle tone, in neonatal onset
Waddling walk[ more ]
|1%-4% of people have these symptoms|
Inability to make and keep healthy fat tissue
Decreased size of midface
Underdevelopment of midface[ more ]
|Wide nasal bridge||
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Difficulty climbing stairs||
Difficulty walking up stairs
|EMG: myopathic abnormalities||0003458|
|Pelvic girdle muscle weakness||0003749|
|Shoulder girdle muscle weakness||0003547|
Signs and symptoms worsen slowly with time
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.
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.
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.
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.
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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