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Limb-Girdle Muscular Dystrophy Type 2F

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2F


Presentation

  • 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]
Facial Muscle Weakness
  • 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]

Treatment

  • 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]
  • 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]
  • 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]
  • Wang Current Treatment Options in Neurology (2018) A novel inducible mutagenesis screen enables to isolate and clone both embryonic and adult zebrafish mutants Zhipeng Ma, Peipei Zhu, Meijun Pang, Liwei Guo, Nannan Chang, Jiyuan Zheng, Xiaojun Zhu, Ce[nature.com]

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 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]

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 Jan. 71(1):141-5. [Medline]. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M.[emedicine.medscape.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]
  • 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

  • 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]
  • 0003557 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Macroglossia Abnormally large tongue Increased size of tongue Large tongue Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent[rarediseases.info.nih.gov]

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