We report a 33-year-old woman with initial presentations of exercise intolerance and running difficulty at age 15 years. At presentation, waddling gait, positive Gowers' sign, and marked muscle atrophy in pelvic and leg muscles were noted. [ncbi.nlm.nih.gov]

* 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]

In the present study, two families (A, B) showing clinically distinct autosomal recessive limb girdle muscular dystrophy type 2A were evaluated genetically. Any other abnormality was not observed in both families. [abebooks.com]

In the present study, whole exome sequencing was performed on six unrelated Iranian families who presented with progressive muscle weakness, with a strong suspicion of Calpainopathies. [uniprot.org]

• Difficulty Walking

  COMMON Features of the Disorder Difficulty walking Wheelchair assistance Scoliosis Joint contractures Muscle cramps Exercise intolerance Cardiomyopathy (weak heart muscles) Breathing problems PROGNOSIS Individuals can be affected to different degrees, [evolvegene.com]

  Get Update Overview Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. [diseaseinfosearch.org]

  […] arms and upper legs 0003701 Scapular muscle atrophy 0009060 Scapular winging Winged shoulder blade 0003691 Spinal rigidity Reduced spine movement 0003306 Toe walking Toe-walking 0040083 5%-29% of people have these symptoms Difficulty climbing stairs Difficulty [rarediseases.info.nih.gov]

• Vietnamese

  In addition to proper diagnosis of our patient, our results identified onecarrierin100 control Vietnamese samples ( Figure 2 ), indicating that c.424C T is a frequent mutation in the Vietnamese population. [omicsonline.org]

• Positive Gower's Sign

  At presentation, waddling gait, positive Gowers' sign, and marked muscle atrophy in pelvic and leg muscles were noted. [ncbi.nlm.nih.gov]

• Gowers Sign

  At presentation, waddling gait, positive Gowers' sign, and marked muscle atrophy in pelvic and leg muscles were noted. [ncbi.nlm.nih.gov]

  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]

• Clumsiness

  […] symptoms Difficulty climbing stairs Difficulty walking up stairs 0003551 Facial palsy Bell's palsy 0010628 Wrist flexion contracture 0001239 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Clumsiness [rarediseases.info.nih.gov]

Muscle biopsy is next step in the workup. [healio.com]

• Creatine Phosphokinase Increased

  phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 Hamstring contractures 0003089 Hyperlordosis Prominent swayback 0003307 Lower limb muscle weakness Lower extremity weakness Lower [rarediseases.info.nih.gov]

TREATMENT Treatment for Limb-Girdle Muscular Dystrophy Type 2A is symptomatic depending on the features of an individual. [evolvegene.com]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.com]

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]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Information Provider Login Menu « Back to Search Results Printer Friendly Version Gene : CAPN3 GeneAware Complete GeneAware ACMG and ACOG GeneAware Ashkenazi Jewish GeneAware Basic Disease Highlights Intellectual Disability Disease Impact Variable Effective Treatment [geneaware.clinical.bcm.edu]

However, the prognosis is highly variable even within family members. The age of onset also varies and can range from early childhood to adulthood. [cags.org.ae]

COMMON Features of the Disorder Difficulty walking Wheelchair assistance Scoliosis Joint contractures Muscle cramps Exercise intolerance Cardiomyopathy (weak heart muscles) Breathing problems PROGNOSIS Individuals can be affected to different degrees, [evolvegene.com]

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]

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]

Genetic counselling provides information on the inheritance pattern, risks to other family members, and the ‘prognosis’ (likely outcome of the disorder). [mda.org.au]

Abstract Limb-girdle muscular dystrophies (LGMDs) are a group of inherited diseases whose genetic etiology has yet to be elucidated. [ncbi.nlm.nih.gov]

[…] association. ( 9813455 ) Lonjou C....Morton N. 1998 41 Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. ( 9642272 ) Ono Y....Suzuki K. 1998 42 Multiple independent molecular etiology [malacards.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]

[…] lez C....Prior C. 2017 6 Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation. ( 28103310 ) Pantoja-Melendez C.A....Zenteno J.C. [malacards.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]

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]

31 Limb girdle muscular dystrophy type 2A presenting with cardiac arrest. ( 11301229 ) Dirik E....Sahin B. 2001 32 Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A. ( 11245732 ) Talim B....Merlini L. 2001 33 Pathophysiology [malacards.org]

Dino Ferrari Centre, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via Francesco Sforza 35, Italy; email: [email protected] References: Walton [moh-it.pure.elsevier.com]

While this nomenclature is useful for keeping track of the growing list of conditions subsumed under the label LGMD, there is little clinical or pathophysiological information for the clinician in this list. [healio.com]

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

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

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

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]

We will not share your individual-level information with any third party without your explicit consent We have been long-time supporters of legislative efforts intended to prevent genetic discrimination and to safeguard individuals' genetic privacy and [23andme.com]

Management [ 2 ] There is no specific therapy for LGMD. [ 14 ] Nondrug treatment Physiotherapy to prevent contractures, using passive stretching, exercise therapy, orthoses. [ 15 ] Exercise - the role of exercise in LGMD is controversial, but guidelines [patient.info]