Cardiac disease may be present in up to 33%. [emedicine.medscape.com]

* About two thirds of patients present at 8-15 years of age, with a range of 2-40 years. * The most typical presentation is of weakness due to scapular-humeral-pelvic weakness that may be similar to the presentation of facioscapulohumeral dystrophy. [checkorphan.org]

Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable. [chs-journal.com]

It usually presents within the first decade of life. The most common presenting complaint is primarily myalgia, followed by ‘rippling muscles’ and proximal muscle weakness [ 68 ]. [content.iospress.com]

In the present study, in 90% of cases, the age ranged from 3 to 40 years and the mean age at presentation and onset of symptoms were 21 and 14 years, respectively. [neurologyindia.com]

• Difficulty Walking

  [ 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 [rarediseases.info.nih.gov]

  Affected individuals may have calf weakness with or without atrophy, and have difficulty walking on their toes. Later manifestations include asymmetric involvement of the proximal muscles of the lower and upper limb-girdle, with quadriceps atrophy. [egl-eurofins.com]

  Outstanding symptoms are difficulty walking, climbing stairs, and frequent falls due to lower limb involvement. Approximately 2-5 years later, weakness is noted in the upper extremities. Some swaying of the back may be noted at this time as well. [wohproject.org]

• Turkish

  In a group of 38 autosomal recessive Turkish LGMD families Dincer et al. (2000) detected 7 CAPN3, 3 DYSF, 2 SGCA, 7 SGCB, 5 SGCG, 1 SGCD and 2 LAMA2 deficiencies. [dmd.nl]

  LGMD2K This extremely rare form of LGMD has been reported in Turkish individuals. Onset is during infancy or early childhood. Affected individuals display slowly progressive muscle weakness and most retain the ability to walk into late adolescence. [rarediseases.org]

  A few cases have been described in Turkish and English families. LGMD 2L (fukutin) Childhood There is deterioration of weakness with viral infections. May have cardiac and respiratory involvement. [patient.info]

  Basque (Spain); Turkish Dysferlinopathy Approximately 10% Libyan Jews Telethoninopathy Rare Italian LGMD2H Unknown Unknown LGMD2I Unknown Unknown LGMD1A Rare Unknown LGMD1B Rare Unknown Caveolinopathy Rare Unknown LGMD1D Rare Unknown LGMD1E Rare Unknown [encyclopedia.com]

  LGMD 1E has been described in families in America and Finland [ 77, 78 ] with LGMD 2R only reported in a Turkish Family [ 54 ]. Patients typically present in adulthood with progressive weakness. [content.iospress.com]

• Congestive Heart Failure

  Cardiac transplantation has been effective in some patients with LGMD1B and other subtypes who succumbed to end stage congestive heart failure [ 18, 19 ]. [pubs.sciepub.com]

  Severely abnormal ejection fraction can occur in about 10% of patients and may cause symptomatic congestive heart failure. Rhythm abnormalities are not present. [emedicine.medscape.com]

• Fishing

  One Week Left to Submit Comments to Wyoming Game and Fish on Hunting Seasons Written comments shall be presented to the Game and Fish Commission prior to their April 2023 meeting in Casper. [k2radio.com]

• Tachycardia

  […] nemaline myopathy Amyotrophic lateral sclerosis Autosomal dominant macrothrombocytopenia Autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb girdle muscular dystrophy type 2A Catecholaminergic polymorphic ventricular tachycardia [csbg.cnb.csic.es]

  Six (35.3%) of the patients had ECG signs of pulmonary hypertension, ventricular ectopic beats and sustained paroxysmal sinus tachycardia. Others include inverted T-waves; tall R-waves in leads V1-V2 which this patient had and deep Q-waves in V4-V6. [chs-journal.com]

• Proximal Muscle Weakness

  Proximal muscles are the muscles that are closest to the center of the body such as the muscles of the shoulder, pelvis, and upper arms and legs. Muscle weakness may spread from the proximal muscles to affect distal muscles. [rarediseases.org]

  In addition to proximal muscle weakness, there may or may not be: Distal muscle weakness. Muscle hypertrophy. Contractures. Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.) [patient.info]

  Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. [paperity.org]

  In this study, we applied the IDP on a PGM to diagnose a Vietnamese female who presented with proximal muscle weakness. Using this strategy, we identified a nonsense mutation in CAPN3 responsible for LGDM2A. [omicsonline.org]

  […] swallowing Caveolinopathy Approx. 5 years Mild to moderate proximal weakness Muscle cramping Enlargement of the calf muscles Some have no symptoms Bethlem myopathy Floppy muscles in infancy 2/3 of patents are wheelchair bound Proximal muscle weakness [encyclopedia.com]

• Myalgia

  HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients. Papadopoulos C, Laforêt P, Nectoux J, et al. Muscle & Nerve, 2017, Epub, 19 p. [myobase.org]

  May develop myalgia, myoglobinuria, contractures, muscle hypertrophy. [patient.info]

  Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients. Muscle Nerve. 2017;56:1096–100. [ncbi.nlm.nih.gov]

  Patients may also present with elevation of CK levels without weakness but with myalgia and cramps, distal weakness, hypertrophic cardiomyopathy, or rippling-muscle disease. [emedicine.medscape.com]

  0002355 Hyperlordosis Prominent swayback 0003307 Kyphosis Hunched back Round back [ more ] 0002808 Left ventricular dysfunction 0005162 Macroglossia Abnormally large tongue Increased size of tongue Large tongue [ more ] 0000158 Muscle spasm 0003394 Myalgia [rarediseases.info.nih.gov]

• Osteoporosis

  If there is concern for osteoporosis, exercise can be low impact such as swimming and stationary bicycle. Educate patients on the warning signs of over exertion such as dark colored urine (indicating myoglobinuria), muscle pain or cramps. [now.aapmr.org]

• Mild Facial Weakness

  There is distal leg weakness. May have cardiac involvement; there is no respiratory involvement. May have normal CK. LGMD 2H (TRIM 32) Young adult This is rare outside Canada. May have mild facial weakness. [patient.info]

• Seizure

  There are no recurrent falls, dysphasia, respiratory or speech difficulty, and he has never had a seizure or stroke. He is not a diabetic or thyroid disease patient, and he does not take alcohol or steroids. [chs-journal.com]

  […] winging High arched palate; scoliosis; A-V block; cardiomyopathy; Respiratory insufficiency LGMD2S TRAPPC11 / Trafficking particle subunit complex, subunit11 Early to late childhood High Moderate Legs>Arms Movement disorder and intellectual disability; seizures [now.aapmr.org]

  Seizures, ataxia, and ocular abnormalities can occur. LGMD2T - GDP-mannose pyrophosphorylase B (GMPPB ) mutation. [emedicine.medscape.com]

• Dysarthria

  The muscles of the respiratory system may also become involved in some cases resulting in difficulty swallowing (dysphagia), slurred speech (dysarthria), and breathing difficulties. [rarediseases.org]

  Dysarthria and facial weakness may be present. Cardiomyopathy or arrhythmia is noted in 50%. Neuropathy noted in more than 50% may account for distal weakness. [emedicine.medscape.com]

  Onset CK Level Progression Muscular Findings Extramuscular Findings LGMD1A MYOT/Myotilin Adulthood Normal to High Slow Scapular-humeral-pelvic Distal Weakness; Rimmed vacuole; Ankle contractures Peripheral Neuropathy; Cardiomyopathy; Nasal speech / dysarthria [now.aapmr.org]

While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 19 different types of limb-girdle muscular dystrophy. [diseaseinfosearch.org]

There is no specific treatment for LGMD2C. [rarediseases.info.nih.gov]

Treatment: No treatment other than physical therapy is available. Prognosis: Most patients live into adulthood but progression is inevitable and all individuals eventually become totally disabled. [wohproject.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]

Contractures are common, in which case the disease needs to be differentiated from Emery-Dreifuss muscular dystrophy, Bethlem myopathy, and laminin-alpha2 deficiency Prognosis - Limb-girdle muscular dystrophy type 2A This depends upon the type. [checkorphan.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]

Chronic pain can occur, and pain management should be part of care. [ 19 ] Prognosis This depends on the type of LGMD and whether there is cardiac or respiratory involvement. In general, all types of LGMD progress with time. [patient.info]

[…] corticosteroids in LGMD 2C-F individuals, shows some improvement [9] Additionally individuals can follow management that follows: [3] Occupational therapy Respiratory therapy Speech therapy Neutralizing antibody to myostatin should not be pursued In terms of the prognosis [en.wikipedia.org]

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]

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 of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012;71:141–5. CrossRef PubMed 9. Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, et al. [springermedizin.de]

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012; 71:141-5 ; Harms MB, et. al. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. [google.com]

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]

[…] dissection Moyamoya disease Autosomal dominant nonsyndromic sensorineural deafness type DFNA Synonym(s): - LGMD2J Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

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]

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. Citation on PubMed Mitsuhashi S, Kang PB. [medlineplus.gov]

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]

^ a b c d "Limb-Girdle Muscular Dystrophy: Practice Essentials, Background, Pathophysiology". [en.wikipedia.org]

The pathophysiological role of calpain-3 is not exactly known. Immunohistochemical (IHC) analysis of calpainopathy is still not possible as there is no anti-calpain-3 antibody available that is compatible for IHC on muscle biopsy cryosections. [neurologyindia.com]

Multiple functions are described, but the pathophysiologic basis for LGMD1B is unknown. [emedicine.medscape.com]

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]

Prevention - Limb-girdle muscular dystrophy type 2A Not supplied. [checkorphan.org]

A physiotherapist can recommend stretches to keep joints supple and if necessary special splints (orthoses) to prevent muscle shortening (contractures) which are common in some types of LGMD. [mda.org.au]

PREVENTION Muscular dystrophy is an inherited disease. [tellmegen.com]