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]

2016, 99, p. 91-98 The sarcoglycan complex in skeletal muscle Tarakci H, Berger J Frontiers in bioscience, 2016, 21, p. 744-756 A comparison of the substrate specificities of endo-beta-N-acetylglucosaminidases from Streptomyces griseus and Diplococcus Pneumoniae [myobase.org]

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]

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]

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]

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]

Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. [orpha.net]

Affected individuals may also develop overgrowth (hypertrophy) of calf muscles and mild contractures of the elbows or Achilles tendon. [rarediseases.org]

isolation common in these disorders Last updated: 8/9/2016 We hope this information is helpful. [rarediseases.info.nih.gov]

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]

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]

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]

There was left ventricular hypertrophy by Sokolow-Lyon voltage criteria (SV1 RV5). [chs-journal.com]