Edit concept Question Editor Create issue ticket

Limb-Girdle Muscular Dystrophy Type 2E

LGMD2E


Presentation

  • […] 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 C2930900 MeSH: - GARD: 3851 870 MedDRA: - The documents contained in this web site are presented[orpha.net]
  • 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]
  • Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable.[chs-journal.com]
  • Recommendations and precautions Swallowing difficulties are rarely reported in LGMD2 patients, however if present, they should be assessed by a SALT.[mdfgauteng.org]
Asymptomatic
  • The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.[checkorphan.org]
  • LGMD2E is often associated with severe symptoms that can be fatal by the late teens, although some people with the disease have a mild course or are nearly asymptomatic.[beta-sarcoglicanopathy.org]
  • This is a common cause of asymptomatic hyperCKemia.[emedicine.medscape.com]
  • […] one); 26.6% NI NI NI [ 34 ] Italy 214 probands with muscular dystrophy or myopathy NI 13 (9 had two mutations, 4 one); 6.1% NI NI [ 35 ] Germany 98 probands with LGMD2 and 102 probands with asymptomatic or minimally symptomatic hyperCKemia NI 7; 3.5%[bmcneurol.biomedcentral.com]
  • This is milder variant with early age of onset HyperCKemia in which asymptomatic individuals have only high serum creatine kinase (CK) concentrations. Usually, it occurs in young children.[annalsofian.org]
Delayed Speech Development
  • speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language[rarediseases.info.nih.gov]
Calf Hypertrophy
  • Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.[orpha.net]
  • The calf muscles are often enlarged as well, a symptom known as calf hypertrophy. A minority of people with LGMD2E (about 20%) experience a weakening of the heart muscles (Fanin et al 2003; Barresi et al. 2000).[beta-sarcoglicanopathy.org]
  • Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. Last updated: 4/1/2017 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]
  • ; calf hypertrophy Cardiomyopathy LGMD2E SGCB / βSarcoglycan Early childhood Very high Rapid Tongue hypertrophy; Muscle hypertrophy Cardiomyopathy LGMD2F SGCD / δSarcoglycan Early childhood Very high Rapid Calf hypertrophy; cramps Cardiomyopathy LGMD2G[now.aapmr.org]
Painful Muscle Cramps
  • Symptoms - Limb-girdle muscular dystrophy- type 2E Weakness Toe walking Muscle pain Muscle cramps Shoulder girdle muscle weakness Causes - Limb-girdle muscular dystrophy- type 2E * Leg disorders * Hip disorders * Knee disorders * Brain disorders * Balance[checkorphan.org]
Leg Cramp
  • See causes of leg cramps or misdiagnosis of diabetes... Treatment - Limb-girdle muscular dystrophy- type 2E Not supplied. Resources - Limb-girdle muscular dystrophy- type 2E Not supplied.[checkorphan.org]
Hypertrophy of Calf Muscles
  • Affected individuals may also develop overgrowth (hypertrophy) of calf muscles and mild contractures of the elbows or Achilles tendon.[rarediseases.org]
Vision Disorder
  • disorders * Nerve disorders Prevention - Limb-girdle muscular dystrophy- type 2E Not supplied.[checkorphan.org]
Myopathic Facies
  • Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ] 0003236 Gowers sign 0003391 Increased variability in muscle fiber diameter 0003557 Myopathic[rarediseases.info.nih.gov]
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]
Delayed Speech and Language Development
  • Showing of 23 30%-79% of people have these symptoms Broad-based gait Wide based walk 0002136 Calf muscle hypertrophy Increased size of calf muscles 0008981 Delayed speech and language development Deficiency of speech development Delayed language development[rarediseases.info.nih.gov]
Broad-Based Gait
  • Showing of 23 30%-79% of people have these symptoms Broad-based gait Wide based walk 0002136 Calf muscle hypertrophy Increased size of calf muscles 0008981 Delayed speech and language development Deficiency of speech development Delayed language development[rarediseases.info.nih.gov]
Language Delays
  • delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Difficulty walking Difficulty in walking 0002355 Elevated[rarediseases.info.nih.gov]
Spastic Paraplegia
  • 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]

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

  • TREATMENT Treatment for Limb-Girdle Muscular Dystrophy Type 2E is symptomatic depending on the features of an individual.[evolvegene.com]
  • More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2E is available below.[checkorphan.org]
  • Treatment: No known treatment is available. Prognosis: An active lifestyle is not possible in this disease much beyond the first decade.[wohproject.org]
  • 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]
  • 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

  • Limb-Girdle Muscular Dystrophy Type 2E can have features that resemble another fatal genetic disorder, Duchenne Muscular Dystrophy, therefore, appropriate diagnosis is essential for proper prognosis and treatment.[evolvegene.com]
  • Prognosis - Limb-girdle muscular dystrophy- type 2E Leg cramps at night a classic sign: The symptom of having leg muscle cramps, particularly at night, is a classic sign of undiagnosed diabetes. However, there are also various other causes.[checkorphan.org]
  • Prognosis: An active lifestyle is not possible in this disease much beyond the first decade. Life expectancy with good supportive care is good, however, since many individuals live to adulthood and one patient lived into the seventh decade.[wohproject.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]
  • Prognosis and management, therefore, are not uniform across the subtypes of LGMD2. Nonetheless, early identification of complications and risk factors is crucial.[mdfgauteng.org]

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]
  • .; 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]
  • 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]
  • Epidemiology LGMD is reported in races and countries throughout the world. Autosomal dominant and autosomal recessive forms of LGMD affect both sexes equally. The age of onset varies among the different mutations.[emedicine.medscape.com]
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

  • Causes - Limb-girdle muscular dystrophy- type 2E * Leg disorders * Hip disorders * Knee disorders * Brain disorders * Balance disorders - see causes of balance disorders Inner ear infection Vitamin B12 deficiency * Vision disorders * Nerve disorders Prevention[checkorphan.org]
  • No specific treatment is known and many patients receive physical therapy to prevent worsening of contractures. *Author: Dr A. van der Kooi (October 2004)*.[beta-sarcoglicanopathy.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]
  • This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2.[pubs.sciepub.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]

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!