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Autosomal Recessive Limb-Girdle Muscular Dystrophy

LGMD Autosomal Recessive


Presentation

  • The present report concerns two patients, male and female siblings, manifesting a different degree of severity for the same autosomal recessive limb-girdle muscular dystrophy.[ncbi.nlm.nih.gov]
  • Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.[orpha.net]
Underweight
  • Note micro- or macrocephaly, stature, overweight or underweight status. Functional assessment Musculoskeletal System: Assess muscle bulk for patterns of hypertrophy and atrophy. Look for any asymmetry.[now.aapmr.org]
Myopathy
  • The AR distal muscular dystrophies originally included two subgroups, Miyoshi myopathy, characterized mainly by extremely elevated serum creatine kinase (CK) activity and by a dystrophic muscle pattern, and Nonaka myopathy, which is distinct from the[ncbi.nlm.nih.gov]
  • Defects in DYSF are the cause of distal myopathy with anterior tibial onset (DMAT). Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved.[mybiosource.com]
Proximal Muscle Weakness
  • Abstract Characterized by proximal muscle weakness and wasting, limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of clinical disorders.[ncbi.nlm.nih.gov]
  • muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life.[orpha.net]
  • LGMD2L (anoctominopathy) Affected individuals were reported to have proximal muscle weakness in lower and upper limbs and muscle hypertrophy was common. Intelligence was reported to be normal.[rarediseases.org]
  • LGMD 2A (calpain 3) Childhood (8-15) There is mainly proximal muscle weakness. There is slow progression. Muscle atrophy is prominent (notable sparing of the hip abductors). Contractures are common.[patient.info]
  • Polymyositis This is more common in older individuals and is associated with a progressive and symmetrical proximal muscle weakness. On investigation, these patients have an increased creatinine kinase and are positive for anti-Jo-1 antibodies.[lecturio.com]
Positive Gower's Sign
  • Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.[orpha.net]
Joint Dislocation
  • dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (多発性関節脱臼-低身長-頭蓋顔面形態異常-先天性心奇形) B3GAT3 Norwalk virus infection, resistance to B12QTL1(ビタミンB12血漿レベルQTL1) FUT2 PNH1 (Paroxysmal nocturnal hemoglobinuria, somatic; 発作性夜間ヘモグロビン[jcggdb.jp]
Suggestibility
  • Abstract The clinical similarity with the X-linked muscular dystrophies and the uniqueness of the homology between the DMD-like and the 1.8 kb sequences at the carboxyterminal domain of the dystrophin gene led to the suggestion that this 6q sequence might[ncbi.nlm.nih.gov]
  • It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair.[mybiosource.com]
Onset in Adolescence
  • Others have milder disease with onset in adolescence or adulthood. This disorder may cause weakening of heart muscles in some people. They may also develop joint and spine deformities. Intellect is generally not affected.[geneaware.clinical.bcm.edu]
Limb Weakness
  • weakness Contractures Irregular heart beat Sudden death due to cardiac problems (if untreated) LGMD1D Proximal muscle weakness All patients remain able to walk Cardiac conduction defect Dilated cardiomyopathy LGMD1E 9–49 years (30 average) Proximal lower[encyclopedia.com]
  • Nutritional: Patient may have dysphagia or inability to feed themselves due to upper limb weakness. Referral for swallow evaluation and optimization of nutrition is important.[now.aapmr.org]
  • weakness, calf hypertrophy and loss of ambulation.[journals.plos.org]
  • GNE myopathy is included in this discussion as the clinical presentation is of limb weakness and is a common disease in the Indian context.[annalsofian.org]
Spastic Paraplegia
  • Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases.[books.google.com]
  • paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis[en.wikipedia.org]
Cesarean Section
  • This case highlights the fact that regional anesthesia, especially segmental epidural can be safely used to provide anesthesia for cesarean section in patients with muscular dystrophy.[aeronline.org]

Workup

  • 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]

Treatment

  • This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • 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]
  • More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2C is available below.[checkorphan.org]

Prognosis

  • 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 - Limb-girdle muscular dystrophy- type 2C Patients may also present with elevated CK levels without weakness but with myalgia and cramps, distal weakness, hypertrophic cardiomyopathy, or rippling-muscle disease.[checkorphan.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]
  • Outlook (Prognosis) In general, people tend to have weakness that slowly gets worse in affected muscles and spreads. The disease causes loss of movement. The person may be dependent on a wheelchair within 20 to 30 years.[ufhealth.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]

Etiology

  • 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; 71 :141–5. [ PubMed : 22275259 ] Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dinçer P.[ncbi.nlm.nih.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]

Epidemiology

  • 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]
  • 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]
  • 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]
  • 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]
  • Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet. 1997; 34 :973–7. [ PMC free article : PMC1051145 ] [ PubMed : 9429136 ] Fanin M, Melacini P, Boito C, Pegoraro E, Angelini C.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • Prevention Genetic counseling may help some couples and families learn about the risks and help with family planning. Some of the complications can be prevented with appropriate treatment.[ufhealth.org]
  • 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]
  • Prevention - Limb-girdle muscular dystrophy- type 2C Not supplied. Diagnosis - Limb-girdle muscular dystrophy- type 2C Not supplied.[checkorphan.org]
  • This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2.[pubs.sciepub.com]

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