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

• 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 this disorder. [geneaware.clinical.bcm.edu]

  In the early stages of limb-girdle muscular dystrophy, affected individuals may have an unusual walking gait, such as waddling or walking on the balls of their feet, and may also have difficulty running. [medlineplus.gov]

  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]

  running, climbing stairs, a positive Trendelenburg sign, and a positive Cowers' maneuver. [healio.com]

• Difficulty Walking

  Onset of symptoms (i.e. walking difficulty) can vary from childhood to adulthood. Individuals with severe symptoms such as cardiac involvement or respiratory failure are at increased risk for life-threatening complications. [evolvegene.com]

  Toe-walking 0040083 5%-29% of people have these 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 [rarediseases.info.nih.gov]

  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]

  LGMD has an autosomal pattern of inheritance and currently has no known cure or treatment. [6] [7] Signs and symptoms [ edit ] The symptoms of an individual with Limb-girdle Muscular Dystrophy (LGMD) generally has great difficulty walking, going both [en.wikipedia.org]

• Anemia

  Northern European descent Primary Hyperoxaluria Type 2 1 variant in the GRHPR gene Rhizomelic Chondrodysplasia Punctata Type 1 1 variant in the PEX7 gene Salla Disease 1 variant in the SLC17A5 gene; relevant for Finnish, Swedish descent Sickle Cell Anemia [23andme.com]

  06.06.2014 A PL1 Plasminogen mangel type I 01.01.2010 A POL Polymyositt 01.01.2010 A PON Polyarteritis nodosa 01.01.2013 B POS Poland syndrom 01.07.2016 A POX Primær Oxalose 01.01.2000 A PPH Pemphigus (alle varianter) 01.01.2000 A PRC Pure Red Cell Anemia [helsedirektoratet.no]

  Symptoms of Sialuria are variable but include jaundice at birth, enlarged liver and spleen, and a type of anemia that causes very small red blood cells (microcytic anemia). [natera.com]

• Amyloidosis

  (PMID: 19221801) Pramono ZA … Yee WC (Human genetics 2009) 3 4 22 60 Dysferlin-deficient muscular dystrophy features amyloidosis. [genecards.org]

  Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord. 2012;22:13–5. [ncbi.nlm.nih.gov]

  […] increase the risk for heart disease 24 variants in the LDLR and APOB genes; relevant for European, Lebanese, Old Order Amish descent G6PD Deficiency Genetic risk for a form of anemia 1 variant in the G6PD gene; relevant for African descent Hereditary Amyloidosis [23andme.com]

• Lordosis

  Affected individuals may also have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. [medlineplus.gov]

  Affected individuals may also have an abnormally curved lower back ( lordosis ) or a spine that curves to the side ( scoliosis ). Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. [ghr.nlm.nih.gov]

  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]

  In addition, a skeletal examination should look for the presence of contractures, spinal rigidity, scoliosis, kyphosis, and lordosis, and for the presence of excessive joint hyperlaxity. [healio.com]

  Children walk with waddle and exhibit lordosis. Cardiac involvement is known but not as common or prominent as in dystrophinopathies. [annalsofian.org]

• Joint Stiffness

  Affected people may experience protruding of the shoulder blade, joint stiffness, and overgrowth of the calf muscles. Intellect is generally not affected. [geneaware.clinical.bcm.edu]

  Some develop joint stiffness (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some people with limb-girdle muscular dystrophy. [medlineplus.gov]

• Hypertrophy of Calf Muscles

  of certain muscles such as the calf muscle. [rarediseases.org]

• Onset in Adolescence

  Childhood, Adolescent, Adult ICD-10: G71.0 OMIM: 253600 618129 UMLS: C1869123 MeSH: - GARD: 1057 MedDRA: - A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017) Polski (2017, pdf) Detailed [orpha.net]

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

• Creatine Phosphokinase Increased

  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 [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]

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]

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]

"Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies". Neurology. 83 (16): 1453–1463. doi : 10.1212/WNL.0000000000000892. ISSN 0028-3878. PMC 4206155. [en.wikipedia.org]

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]

[…] 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]

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

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]

[…] 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]

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]

[…] 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]

[…] 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]

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]

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]

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

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]

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]

Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. [3] Treatment is aimed at maintaining mobility and preventing complications. [2] LGMD2A is also known as primary calpainopathy. [1] Calpainopathies [rarediseases.info.nih.gov]

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. Cell Death Discov. 2019;5:118. [ncbi.nlm.nih.gov]