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Disease Profile

Limb-girdle muscular dystrophy type 2I

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 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Childhood

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ICD-10

G71.0

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.

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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)

Autosomal recessive limb-girdle muscular dystrophy type 2I; LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition.[1] In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset.[2] LGMD2I is caused by changes (mutations) in the FKRP gene and is inherited in an autosomal recessive manner.[2][3] There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person.[2]

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
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
Muscular dystrophy
0003560
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Reduced muscle fiber alpha dystroglycan
0030099
30%-79% of people have these symptoms
Abnormality of the Achilles tendon
0005109
Calf muscle hypertrophy
Increased size of calf muscles
0008981
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Pelvic girdle muscle weakness
0003749
Shoulder girdle muscle weakness
Weak shoulder muscles
0003547
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515
5%-29% of people have these symptoms
Difficulty climbing stairs
Difficulty walking up stairs
0003551
Difficulty running
0009046
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Frequent falls
0002359
Motor delay
0001270
Reduced muscle fiber merosin
0030092
Scoliosis
0002650
1%-4% of people have these symptoms
Exercise-induced myoglobinuria
0008305
Percent of people who have these symptoms is not available through HPO
Abnormal left ventricular function
0005162
Achilles tendon contracture
Shortening of the achilles tendon
Tight achilles tendon

[ more ]

0001771
Autosomal recessive inheritance
0000007
Congenital muscular dystrophy
0003741
Difficulty walking
Difficulty in walking
0002355
Hyperlordosis
Prominent swayback
0003307
Kyphosis
Hunched back
Round back

[ more ]

0002808
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]

0000158
Muscle spasm
0003394
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Nocturnal hypoventilation
0002877
Reduced forced vital capacity
0032341
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Thigh hypertrophy
Increased thigh size
0003733
Toe walking
Toe-walking
0040083
Variable expressivity
0003828
Vertebral fusion
Spinal fusion
0002948

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.

    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

      Social Networking Websites

      • Visit the following Facebook groups related to Limb-girdle muscular dystrophy type 2I:
        LGMD2I

        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 was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
          • Genetics Home Reference (GHR) contains information on Limb-girdle muscular dystrophy type 2I. This website is maintained by the National Library of Medicine.

            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 Limb-girdle muscular dystrophy type 2I. Click on the link to view a sample search on this topic.

              References

              1. Limb-girdle muscular dystrophy. Genetics Home Reference (GHR). December 2014; https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy.
              2. Elena Pegoraro & Eric P Hoffman. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1408/. Accessed 5/27/2015.
              3. Hauerslev S, Sveen ML, Vissing J, Krag TO. Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I. PLoS One. June 2013; 8(6):e66929.