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

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

This form of muscular dystrophy presents with weakness of the pelvic and shoulder girdle in childhood, with symptoms usually present by the age of 10 years. [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]

• Weakness

  Weakness of the muscles in the face (later in the disease) Weakness in the muscles of the lower legs, feet, lower arms, and hands (later in the disease) There are no known treatments that reverse the muscle weakness. [medlineplus.gov]

  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]

  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]

  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]

• 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]

  She reported ongoing fatigue with cramps in the hands and feet. Difficulty walking was prominent. She had to walk backwards when coming down the stairs when not wearing shoes. [omicsonline.org]

  "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]

  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]

• 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]

  Examples of this include trouble standing from a sitting position without using the arms, or difficulty climbing stairs. The weakness starts in childhood to young adulthood. [medlineplus.gov]

  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 0002312 [rarediseases.info.nih.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]

  Symptoms that might be noticed first include frequent falls and difficulty climbing stairs, running and rising from the floor. [mda.org.au]

• Unable to Stand

  They are usually unable to stand without using their own body to steady themselves and, as such, present with Gower’s sign (where patients use their own hands to push off the thighs when rising from the floor). They may also waddle. [lecturio.com]

  The initial weakness is in the gastrocnemius muscles, which is usually discovered while standing on toes for sporting activities or exercise programs. Gradually, patients are unable to stand on toes and calf muscles are wasted [Figure 1] a. [annalsofian.org]

• Myopathy

  (MEGF10) DISTAL MYOPATHIES Distal myopathy with decreased caveolin 3 (CAV3) Miyoshi muscular myopathy (DSYF) Miyoshi muscular myopathy 3 (ANO5) Distal myopathy, with anterior tibial onset (DSYF) Distal myopathy 1, Laing (MYH7) Tardive tibial muscular [meduniwien.ac.at]

  Endocrine Myopathies Thyrotoxic myopathy develops due to the overproduction of thyroid hormone. Hypothyroid myopathy develops due to the underproduction of thyroid hormone. Steroid myopathy can either be endogenous or exogenous. [lecturio.com]

  There are many subtypes of LGMD, including some that don’t have LGMD in their name, such as Bethlem myopathy, desmin myopathy, dysferlinopathy, myofibrillar myopathy, sarcoglycanopathies and ZASP-related myopathy. [muscle.ca]

  Several phenotypes can occur: Miyoshi myopathy, anterior tibial myopathy, LGMD, and an axial myopathy. [emedicine.medscape.com]

  This disorder has been named variously as hereditary inclusion body myopathy, distal myopathy with rimmed vacuoles, Nonaka myopathy, and quadriceps sparing myopathy. [annalsofian.org]

• 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]

  weakness Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ] 0007340 Muscular dystrophy 0003560 Pectoralis amyotrophy Wasting of pec muscles 0012037 Pelvic girdle amyotrophy 0008946 Proximal muscle weakness Weakness in [rarediseases.info.nih.gov]

  […] treatments that reverse the muscle weakness. [medlineplus.gov]

• Proximal Muscle Weakness

  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]

  The phenotype of LGMD typically includes predominant weakness in proximal limb muscles with sparing of the facial muscles. Distal muscle weakness may occur in severe cases or later in the disease course. [omicsonline.org]

  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]

  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]

  […] 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]

• 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. [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]

  […] 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]

• Hypertrophy of Calf Muscles

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

• Gowers Sign

  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]

• Areflexia

  […] recessive (BIN1) Central core disease of muscle (RYR1) Myopathy, congenital, with fiber-type disproportion (ACTA1, SEPN1, TPM3) Minicore myopathy, severe classic form (SEPN1) Early-onset myopathy with fatal cardiomyopathy (TTN) Early-onset myopathy, areflexia [meduniwien.ac.at]

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]

Early and prompt treatment and early surveillance is much better than waiting for problems to occur and then trying to deal with them. [treat-nmd.eu]

Supportive treatment can decrease the complications of the disease. The condition is managed based on the person's symptoms. [medlineplus.gov]

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]

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 Currently, there are more than 30 different known LGMDs including the eight dominant (LGMD1A-H) and 23 recessive (LGMD2A-Y) types. [now.aapmr.org]

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]

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]

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]

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]

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]

^ 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]

Heavy gauge stuff with a solid base Pans and pots need to be heavy enough to transfer heat evenly and prevent foods from scorching. Cast iron transfers heat well. [musclegenetable.org]

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]