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Limb-Girdle Muscular Dystrophy Type 2L

LGMDR12


Presentation

  • Cardiac disease may be present in up to 33%.[emedicine.medscape.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]
  • An algorithm has been presented to help the clinical evaluation [Algorithm 1].[annalsofian.org]
  • POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum. Mol. Genet. 2014; 23(21):5781-92. PMID: 24925318 Lemmers, RJ, et al.[invitae.com]
Proximal Muscle Weakness
  • 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]
  • Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness.[paperity.org]
  • 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]
  • […] 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 by age 50 Contractures * Includes alpha, beta, gamma[encyclopedia.com]
Mild Facial Weakness
  • May have mild facial weakness. May have cardiac involvement; there is no respiratory involvement. May have normal CK. LGMD type 2I (fukutin-related proteinopathy) Variable This is relatively common in northern Europe.[patient.info]

Treatment

  • While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 19 different types of limb-girdle muscular dystrophy.[diseaseinfosearch.org]
  • 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]
  • 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]
  • 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]

Prognosis

  • 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]
  • 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 her course, she did not show any improvement in her clinical status and was declared by multidisciplinary team specialist to have grave prognosis. Her family decided to initiate comfort care measures, thereafter, patient eventually expired.[pubs.sciepub.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]
  • 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]
  • Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol. 2012; 71:141-5 ; Harms MB, et. al. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.[google.com]
  • 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]

Epidemiology

  • […] 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

Prevention

  • 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]
  • 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]
  • PREVENTION Muscular dystrophy is an inherited disease.[tellmegen.com]
  • 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]

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