Edit concept Question Editor Create issue ticket

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2R

LGMD2R


Presentation

  • 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]
  • The granular component of these structures is more consistently present than the filaments ( Goebel, 1995, 1997 ).[doi.org]
  • For the first time, we present consistent high resolution data on the structural effects of five heterozygous desmin mutations on filament formation in vitro and in living cells.[doi.org]
Collapse
  • Transfection studies confirmed that this mutation induces collapse of the preexisting desmin cytoskeleton.[doi.org]
Irritability
  • Electro myography revealed a myopathic pattern associated with abnormal electrical irritability; 13 patients had abnormal nerve conduction studies but four of these had long‐standing diabetes.[brain.oxfordjournals.org]
Paresthesia
  • Symptoms elicited at the time of diagnosis consisted of slowly progressive weakness, 58; paresthesias, 10; muscle wasting, nine; muscle stiffness, aching or cramps, eight; dyspnoea, eight; dysphagia, four; head drop due to isolated neck extensor weakness[brain.oxfordjournals.org]

Treatment

  • There is currently no cure for the disease but treatments to help the symptoms are available. Prognosis strongly depends on which subtype of disease it is. Some are deadly in infancy but most are late onset and mostly manageable.[en.wikipedia.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]
  • 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]
  • 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]
  • The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD.[clinicaltrials.gov]

Prognosis

  • Prognosis strongly depends on which subtype of disease it is. Some are deadly in infancy but most are late onset and mostly manageable.[en.wikipedia.org]
  • 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]
  • 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 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]
  • The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. Neurology 1998 ; 51 : 1646 –55. Asijee GM, Sturk A, Bruin T, Wilkinson JM, Ten Cate JW.[brain.oxfordjournals.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]
  • The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. Neurology 1998 ; 51 : 1646 –55. Ariza A, Coll J, Fernandez‐Figueras MT, Lopez MD, Mate JL, Garcia O, et al.[doi.org]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • Emerging roles in physiology and pathophysiology. Circ Res 1997 ; 80 : 290 –4. Melberg A, Oldfors A, Blomström‐Lundqvist C, Stalberg E, Carlsson B, Larsson E, et al.[brain.oxfordjournals.org]

Prevention

  • Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein filaments, instead forming aggregates of desmin and other[en.wikipedia.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]
  • 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]
  • Treatment and patient management There is no specific treatment for desmin myopathy, but some complications can be prevented.[doi.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!