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Limb-Girdle Muscular Dystrophy Type 2C

LGMD2C


Presentation

  • This form of muscular dystrophy presents with weakness of the pelvic and shoulder girdle in infancy or childhood, with symptoms usually present by the age of 12 years. Progression is rapid, and patients are usually wheelchair-bound in adolescence.[sema4genomics.com]
  • In the present investigation, we combined microspectrofluorimetry and electron microscopy techniques to investigate the physiological function and the ultrastructure of control and LGMD2C myotubes.[ncbi.nlm.nih.gov]
  • Exercise-induced cramps may be present. Calf hypertrophy affects some patients. Adults usually remain ambulant. Causes - Limb-girdle muscular dystrophy- type 2C Muscular dystrophy is caused by various genetic mechanisms.[checkorphan.org]
  • […] muscular dystrophy due to gamma-sarcoglycan deficiency Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: G71.0 OMIM: 253700 UMLS: C0410173 MeSH: - GARD: 2429 MedDRA: - The documents contained in this web site are presented[orpha.net]
Difficulty Running
  • This causes unusual walking gait, difficulty running, and usually eventual loss of the ability to walk. Onset of the disorder, progression rate and distribution of weakness are variable among the different subtypes of the disorder.[geneaware.clinical.bcm.edu]
  • They may also experience difficulty running and climbing stairs. Respiratory problems have been reported with this form of LGMD, but heart abnormalities have not been.[rarediseases.org]
Respiratory Abnormalities
  • 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[rarediseases.info.nih.gov]
  • Additional symptoms are often associated with the sarcoglycanopathies including overgrowth of the calf and tongue muscles, cardiomyopathy, respiratory abnormalities, contractures, and scoliosis.[rarediseases.org]
Left Ventricular Dysfunction
  • Echocardiographic parasternal long axis revealing severe global left ventricular dysfunction with an estimated ejection fraction of 25-30%. Figure B. Anteroposterior chest radiograph showing pulmonary edema Figure C.[pubs.sciepub.com]
Calf Hypertrophy
  • hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities.[orpha.net]
  • Calf hypertrophy affects some patients. Adults usually remain ambulant. Causes - Limb-girdle muscular dystrophy- type 2C Muscular dystrophy is caused by various genetic mechanisms.[checkorphan.org]
  • ; calf hypertrophy Cardiomyopathy LGMD2E SGCB / βSarcoglycan Early childhood Very high Rapid Tongue hypertrophy; Muscle hypertrophy Cardiomyopathy LGMD2F SGCD / δSarcoglycan Early childhood Very high Rapid Calf hypertrophy; cramps Cardiomyopathy LGMD2G[now.aapmr.org]
  • DMD is the most severe form of muscular dystrophy and it is characterized as follows1: Rapid progression of muscle weakness, often with calf hypertrophy Decreased levels of serum CK concentration Onset before age five years Wheelchair dependency before[centogene.com]
Lordosis
  • Additional abnormalities that may develop in individuals with LGMD include abnormal side-to-side curvature of the spine (scoliosis), abnormal front-to-back curvature of the spine (lordosis), thickening and shortening of tissue that cause deformity and[rarediseases.org]
  • […] normal strength in distal arms; LGMD2M FKTN / Fukutin Early childhood Very high Moderate Legs arms; mild to moderate facial involvement LGMD2N POMT2 / protein O-mannosyl transferase 2 Early childhood High Slow Calf hypertrophy; scapular winging; skeletal lordosis[now.aapmr.org]
  • Children walk with waddle and exhibit lordosis. Cardiac involvement is known but not as common or prominent as in dystrophinopathies.[annalsofian.org]
Positive Gower's Sign
  • Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.[orpha.net]
Foot Deformity
  • 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[rarediseases.info.nih.gov]
Flexion Contracture
  • contractures of the elbows Wheelchair dependency after age 16 years Preservation of neck flexor muscle strength differentiates BMD from DMD The most common cause of death in BMD-affected patients is dilated cardiomyopathy and heart failure.[centogene.com]
Social Isolation
Onset in Adolescence
  • Others have milder disease with onset in adolescence or adulthood. This disorder may cause weakening of heart muscles in some people. They may also develop joint and spine deformities. Intellect is generally not affected.[geneaware.clinical.bcm.edu]
Gowers Sign
  • Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.[orpha.net]
  • Image : “Gower’s sign.” by William Richard Gowers (1845–1915) – Gowers WR. Clinical lecture on pseudohypertrophic muscular paralysis. Lancet 1879;ii,73-5.[lecturio.com]
  • Is there a finding (or history) of Gower's sign? This is seen in patients with proximal muscle weakness of the lower limb: when rising to stand, they use the hands as support, such that the hands 'climb up the legs'.[patient.info]
Gowers Sign
  • Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.[orpha.net]
  • Image : “Gower’s sign.” by William Richard Gowers (1845–1915) – Gowers WR. Clinical lecture on pseudohypertrophic muscular paralysis. Lancet 1879;ii,73-5.[lecturio.com]
  • Is there a finding (or history) of Gower's sign? This is seen in patients with proximal muscle weakness of the lower limb: when rising to stand, they use the hands as support, such that the hands 'climb up the legs'.[patient.info]

Workup

  • […] molecular diagnosis is not worldwide available, and since a huge clinical variability can be observed in all forms of LGMDs, protein techniques with commercially available anti-telethonin antibodies should be introduced in a routine basis in the diagnostic workup[bmcclinpathol.biomedcentral.com]
Ventricular Hypertrophy
  • There was left ventricular hypertrophy by Sokolow-Lyon voltage criteria (SV1 RV5).[chs-journal.com]

Treatment

  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • A team of doctors or specialists is often needed to figure out the treatment options for each person. [1] Last updated: 8/9/2016 How might limb-girdle muscular dystrophy, type 2C (LGMD2C) be treated? There is no specific treatment for LGMD2C.[rarediseases.info.nih.gov]
  • More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2C is available below.[checkorphan.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • Prognosis - Limb-girdle muscular dystrophy- type 2C Patients may also present with elevated CK levels without weakness but with myalgia and cramps, distal weakness, hypertrophic cardiomyopathy, or rippling-muscle disease.[checkorphan.org]
  • The symptoms are similar to DMD but often milder, and patients are less likely to have mental retardation and have a better prognosis (30-40 years instead of teens).[lecturio.com]
  • Prognosis and management, therefore, are not uniform across the subtypes of LGMD2. Nonetheless, early identification of complications and risk factors is crucial.[mdfgauteng.org]
  • Prognosis: Most patients live into adulthood but progression is inevitable and all individuals eventually become totally disabled. Ancillary treatments and support: Respiratory therapy is important when diaphragmatic weakness becomes prominent.[wohproject.org]
  • Prognosis The prognosis of LGMD varies tremendously. Most people with LGMD, however do not have severe symptoms and most experience a normal lifespan. Cardiac and respiratory difficulties can, however, decrease the lifespan.[encyclopedia.com]

Etiology

  • During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle[clinicaltrials.gov]
  • We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.[scinapse.io]
  • Greenberg SA, Salajegheh M, Judge DP, et al. (2012) Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Annals Neurology 71 (1): 141–145.[els.net]
  • Etiology Currently, there are more than 30 different known LGMDs including the eight dominant (LGMD1A-H) and 23 recessive (LGMD2A-Y) types.[now.aapmr.org]

Epidemiology

  • This prompted us to search the scientific literature since 1990 for the epidemiology of NMDs. Objectives: To study occurrence rates, gender and age distribution.[scinapse.io]
  • Relevant External Links for DYSF Genetic Association Database (GAD) DYSF Human Genome Epidemiology (HuGE) Navigator DYSF Atlas of Genetics and Cytogenetics in Oncology and Haematology: DYSF No data available for Genatlas for DYSF Gene Analysis of the[genecards.org]
  • Other proteins involved include dystroglycan, fukutin-related protein, calpain, dysferlin and telethonin. [ 5 ] Epidemiology [ 2 ] The LGMDs individually are rare, with some forms reported in only a few families.[patient.info]
  • A Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies. Can J Neurol Sci. 2016 Jan;43(1):163-77. doi: 10.1017/cjn.2015.311. Thompson R, Straub V.[now.aapmr.org]
Sex distribution
Age distribution

Prevention

  • 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[rarediseases.info.nih.gov]
  • Prevention - Limb-girdle muscular dystrophy- type 2C Not supplied. Diagnosis - Limb-girdle muscular dystrophy- type 2C Not supplied.[checkorphan.org]
  • Some of the complications can be prevented with appropriate treatment. For example, a cardiac pacemaker or defibrillator can greatly reduce the risk for sudden death due to an abnormal heart rhythm.[medlineplus.gov]
  • This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2.[pubs.sciepub.com]

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