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 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]

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 Walking

  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]

  Difficulties in rising from a chair or toilet seat and difficulties in climbing stairs are common. Eventually walking may become so difficult that a wheelchair or scooter is necessary for locomotion. [encyclopedia.com]

  These patients will have difficulty walking (and will find it even harder to walk on their toes). [lecturio.com]

• 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]

• 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]

• Myalgia

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

  Heterogeneity is seen between subtypes in presenting complaint, most but not all, experience proximal muscle weakness or myalgia. [content.iospress.com]

  Among the 75 calpain-3-deficient patients the clinical presentation was: LGMD phenotype in 64 (85%) patients, distal myopathy in three (4%), and pseudometabolic myopathy with myalgia in one (1.3 %); the remaining seven (9%) were unclassified muscular [neurologyindia.com]

• Small Head

  […] childhood Mildly elevated Moderate Congenital hypotonia Myopia; glaucoma; juvenile cataracts; retinal dysplasia; severe mental retardation; LGMD2P DAG1 / Alpha dystroglycan Early childhood Very High Slow Contractures common Mental Retardation (mild-severe); small [now.aapmr.org]

• Hypertrophy of Calf Muscles

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

• Aggressive Behavior

  X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive [se-atlas.de]

• Onset in Adolescence

  ORPHA:119 Synonym(s): Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Childhood, Adolescent ICD-10: G71.0 OMIM: 604286 UMLS: C1858593 [orpha.net]

• Gowers Sign

  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]

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [rarediseases.info.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]

• Global Developmental Delay

  […] membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Diaphanospondylodysostosis [se-atlas.de]

• Abnormal Gait

  These symptoms have progressed to affect his gait, now walks with an abnormal gait (waddlimg) associated with lower back pain. [chs-journal.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]

"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]

[…] after treatment with rituximab. [ 17 ] Complications and their management [ 2, 8 ] Complications vary, depending on the specific LGMD and on individual variations in the clinical picture. [patient.info]

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]

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]

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

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]

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]

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]

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]

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]

Management of the condition is based on each person's symptoms and may include: [4] Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics [rarediseases.info.nih.gov]