Rare Pulmonology News

Disease Profile

Limb-girdle muscular dystrophy, type 2C

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

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)

Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Gamma-sarcoglycanopathy; LGMD2C;

Categories

Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders;

Summary

Limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic condition that affects the voluntary muscles around the hips and shoulders. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles. Symptoms of LGMD2C usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy), and respiratory abnormalities.[1][2] LGMD2C is caused by mutations in the SGCG gene and is inherited in an autosomal recessive manner.[3] Although there is no specific treatment or cure for LGMD2C, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.[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
30%-79% of people have these symptoms
Abnormal macrophage morphology
0004311
Broad-based gait
Wide based walk
0002136
Calf muscle hypertrophy
Increased size of calf muscles
0008981
Calf muscle pseudohypertrophy
0003707
Difficulty climbing stairs
Difficulty walking up stairs
0003551
Difficulty running
0009046
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
EMG: myotonic discharges
0100284
EMG: myotonic runs
0003730
EMG: positive sharp waves
0030007
Frequent falls
0002359
Increased endomysial connective tissue
0100297
Increased variability in muscle fiber diameter
0003557
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]

0000158
Right ventricular hypertrophy
0001667
Scapular winging
Winged shoulder blade
0003691
Upper limb muscle weakness
Decreased arm strength
Weak arm

[ more ]

0003484
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515
5%-29% of people have these symptoms
Achilles tendon contracture
Shortening of the achilles tendon
Tight achilles tendon

[ more ]

0001771
Gowers sign
0003391
Left ventricular systolic dysfunction
0025169
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Neck flexor weakness
Neck flexion weakness
0003722
Scoliosis
0002650
Tip-toe gait
Walking on tiptoes
0030051
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Flexion contracture
Flexed joint that cannot be straightened
0001371
Hyperlordosis
Prominent swayback
0003307
Muscle fiber necrosis
0003713
Muscular dystrophy
0003560
Pneumonia
0002090
Rapidly progressive
Worsening quickly
0003678
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Right ventricular dilatation
0005133
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202

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

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Treatment

    There is no specific treatment for LGMD2C. Management of the condition is based on each person's symptoms and may include:[4]

    • Weight control to avoid obesity
    • Physical therapy and stretching exercises to promote mobility and prevent contractures
    • Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility
    • Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis
    • Monitoring of respiratory function and use of respiratory aids when indicated
    • Monitoring for evidence of diseases of the heart muscle (cardiomyopathy)
    • Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders

    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 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 2C. This website is maintained by the National Library of Medicine.
      • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        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.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • 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 2C. Click on the link to view a sample search on this topic.

          References

          1. Glenn Lopate. Limb-Girdle Muscular Dystrophy. Medscape Reference. October 28, 2014; https://emedicine.medscape.com/article/1170911-overview.
          2. Kate Bushby. Limb-Girdle Muscular Dystrophies. NORD. 2012; https://rarediseases.org/rare-diseases/limb-girdle-muscular-dystrophies/.
          3. Victor A. McKusick. Limb-girdle muscular dystrophy type 2C. In: Cassandra L. Kniffin. OMIM Database. 8/4/2016; https://www.omim.org/entry/253700.
          4. Pegoraro E and Hoffman EP. Limb-Girdle Muscular Dystrophy Overview. GeneReviews. August 30, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1408/.

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