They often present with both weakness and sensory loss in a “ glove and stocking” fashion. [lecturio.com]

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]

* 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]

• Weakness

  Weakness of the hip and upper leg muscles may cause a distinctive waddling gait. Eventually, muscle weakness affects the muscles of the upper arms and shoulders (limb-girdle area). [rarediseases.org]

  DM1 should be suspected in newborns who present with one or any of the following: Hypotonia Facial muscle weakness Generalized weakness Positional malformations including club foot Respiratory insufficiency. [centogene.com]

  LGMD1C is caused by mutations in the caveolin 3 gene and is characterised by an onset usually in the first decade, a mild-to-moderate proximal muscle weakness; however distal weakness can also occur. [mdfgauteng.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]

  35 years Proximal leg and arm weakness Distal weakness Tight Achilles tendon Problems with articulation of speech Nasal sounding speech LGMD1B 4–38 years (50% onset childhood) Proximal lower limb weakness Contractures Irregular heart beat Sudden death [encyclopedia.com]

• Difficulty Climbing Stairs

  LGMD1 patients may need to use walking aids, can have difficulties climbing stairs and lose the ability to walk. Creatine kinase (CK) levels can be normal to moderately elevated. [mdfgauteng.org]

  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]

  Showing of 26 | 30%-79% of people have these symptoms Achilles tendon contracture Shortening of the achilles tendon Tight achilles tendon [ more ] 0001771 Calf muscle pseudohypertrophy 0003707 Difficulty climbing stairs Difficulty walking up stairs 0003551 [rarediseases.info.nih.gov]

• Fatigue

  They may complain of fatigue or muscle pain and cramping. They have relaxation of the reflexes at an advanced stage of the disease. On investigation, these patients will have a raised creatinine kinase. [lecturio.com]

  Cardiomyopathy is a progressive condition that may result in an impaired ability of the heart to pump blood; fatigue; heart block; irregular heartbeats (arrhythmias) and, potentially, heart failure. [rarediseases.org]

  […] phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 EMG: myopathic abnormalities 0003458 Fatigue [rarediseases.info.nih.gov]

  "Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy". Acta Myologica. 33 (3): 119–126. ISSN 1128-2460. PMC 4369848. PMID 25873780. [en.wikipedia.org]

  He had a 1 year history of easy fatigue, dyspnoea and palpitations on exertion. Episodes of palpitations were not associated with chest pain, dizziness or syncope. [chs-journal.com]

• Epilepsy

  […] and Ragged Red Muscle Fibers MERRF/MELAS overlap disease Myoclonic Epilepsy and Psychomotor Regression Progressive Encephalopathy Epilepsy, Strokes, Optic atrophy, & Cognitive decline Leigh Disease (Maternally Inherited Leigh Syndrome) Kearns-Sayre Syndrome [meduniwien.ac.at]

  Some subtypes of LGMD1 can have central nervous system involvement with intellectual disability and/or epilepsy and rarely movement disorders. [mdfgauteng.org]

  Professor of Neurology, Mayo College of Medicine; Professor of Pediatrics, University of Florida College of Medicine Raj D Sheth, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy [emedicine.medscape.com]

• Respiratory Insufficiency

  DM1 should be suspected in newborns who present with one or any of the following: Hypotonia Facial muscle weakness Generalized weakness Positional malformations including club foot Respiratory insufficiency. [centogene.com]

  Diaphragm function may beome impaired resulting in respiratory insufficiency, sometimes severely. Cardiac, extraocular, and velopharyngeal muscles seem to be spared. [wohproject.org]

  Respiratory insufficiency occurs as muscle weakness progresses; NIV may be required in more severely affected patients. CK is moderately elevated. [mdfgauteng.org]

  May have cardiac and respiratory complications - in some cases, the cardiac muscle is more affected than the skeletal muscle; [ 26 ] diaphragmatic involvement may cause respiratory insufficiency while still ambulant. [patient.info]

• Muscle Weakness

  Muscle weakness may be associated with soreness in the muscles and joint pain. [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]

  OPMD has an adult age of onset, affecting both males and females, causing weakness in the eye muscles and throat. [centogene.com]

  Muscle weakness affecting the heart muscles or muscles necessary for breathing is uncommon in people with LGMD2B. [rarediseases.info.nih.gov]

• 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]

  Hypothyroid myopathy Patients can present with a proximal weakness. They may complain of fatigue or muscle pain and cramping. They have relaxation of the reflexes at an advanced stage of the disease. [lecturio.com]

  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]

• Paresis

  Charcot-Marie-Tooth neuropathy, X-linked (GJB1) Charcot-Marie-Tooth disease, type 4A (GDAP1) Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1) Charcot-Marie-Tooth disease, recessive intermediate, A (GDAP1) Charcot-Marie-Tooth disease, axonal, with vocal cord paresis [meduniwien.ac.at]

See Workup for more detail. Management No specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential to preserve muscle function, maximize functional ability, and prolong life expectancy. [emedicine.medscape.com]

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

Treatment and management So far there are no specific treatments for LGMD2I, however managing the symptoms of the condition improves a person’s quality of life. Keeping mobile is important for all people affected with muscular dystrophy. [lgmd2i.com]

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]

"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]

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]

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]

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]

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012 Jan. 71(1):141-5. [Medline]. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M. [emedicine.medscape.com]

licensee BioMed Central Ltd. 2014 Received: 12 May 2014 Accepted: 21 July 2014 Published: 19 August 2014 Abstract Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that [bmcneurol.biomedcentral.com]

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997, 34:973-977 Olivé M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, et al. [ivyunion.org]

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]

Classification and epidemiology All form of LGMD are inherited autosomally and the classification is alphanumeric with assignation of number ‘1’ or ‘2’ depending on whether they are inherited dominantly or recessively. [content.iospress.com]

Epidemiology LGMD is reported in races and countries throughout the world. Autosomal dominant and autosomal recessive forms of LGMD affect both sexes equally. The age of onset varies among the different mutations. [emedicine.medscape.com]

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

Pathophysiology Limb-girdle muscular dystrophy (LGMD) protein defects occur in several pathways involved in the biologic function of muscle and can be divided into groups based on cellular localization. [emedicine.medscape.com]

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]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

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]

Carriers do not have any symptoms since they have one unchanged gene, which produces enough normal protein to prevent the symptoms of LGMD. [encyclopedia.com]

Pneumovax vaccination and annual flu immunization should be performed in people affected by LGMD2I in order to prevent serious chest infections. [lgmd2i.com]