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Limb-Girdle Muscular Dystrophy Type 2G

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2G


Presentation

  • Discussion The patient here described presented his first symptoms in childhood and evident lower limb muscular weakness at 20 years old.[bmcclinpathol.biomedcentral.com]
  • He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present).[books.google.de]
  • Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable.[chs-journal.com]
  • Entry status i Reviewed (UniProtKB/Swiss-Prot) Annotation program Chordata Protein Annotation Program Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • An algorithm has been presented to help the clinical evaluation [Algorithm 1].[annalsofian.org]
Difficulty Climbing Stairs
  • Showing of 17 Percent of people who have these symptoms is not available through HPO Areflexia of lower limbs 0002522 Autosomal recessive inheritance 0000007 Calf muscle hypertrophy Increased size of calf muscles 0008981 Difficulty climbing stairs Difficulty[rarediseases.info.nih.gov]
  • Some cases of LGMD may have onset during adulthood, mild symptoms, and slow progression; others may have onset during childhood and early severe disability such as difficulty climbing stairs and walking.[rarediseases.org]
Difficulty Walking
  • Related phenotypes are difficulty walking and areflexia of lower limbs Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP).[malacards.org]
  • walking up stairs 0003551 Difficulty running 0009046 Difficulty walking Difficulty in walking 0002355 Distal lower limb amyotrophy 0008944 Distal lower limb muscle weakness 0009053 Elevated serum creatine kinase Elevated blood creatine phosphokinase[rarediseases.info.nih.gov]
Pathologist
  • […] evaluate muscle disorders with confidence "Overall, this is a well written and comprehensive textbook of muscle pathology that will be of invaluable assistance to laboratories reporting muscle pathology" Reviewed by The Bulletin of The Royal College of Pathologists[books.google.de]
  • PMID: 16407954 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion[invitae.com]
Calf Hypertrophy
  • Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.Visit the Orphanet disease page for more resources.[malacards.org]
  • Asymmetric calf hypertrophy is a common sign. Heart involvement is not rare. Serum CK is 3-fold to 30-fold increased. Muscle biopsy shows a dystrophic pattern, including rimmed vacuoles.[link.springer.com]
  • Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. Last updated: 4/1/2017 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]
  • The predominant involvement of pelvic girdle muscles with calf hypertrophy observed in LGMD2G resembles the phenotype of some LGMD-2I.[journals.plos.org]
  • Other symptoms may include the following: Asymmetric or distal weakness (rare) Respiratory failure Cardiomyopathy, cardiac arrhythmias Scapular winging Calf hypertrophy Contractures/rigid spine See Clinical Presentation for more detail.[emedicine.medscape.com]
Small Hand
Hand Muscle Weakness
Areflexia
  • Related phenotypes are difficulty walking and areflexia of lower limbs Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP).[malacards.org]
  • Showing of 17 Percent of people who have these symptoms is not available through HPO Areflexia of lower limbs 0002522 Autosomal recessive inheritance 0000007 Calf muscle hypertrophy Increased size of calf muscles 0008981 Difficulty climbing stairs Difficulty[rarediseases.info.nih.gov]
Tremor
  • Differently from other LGMD2G patients, however, he presented tremor on the hands at his first examination, which significance in the myopathic context of his disease is still not clear.[bmcclinpathol.biomedcentral.com]
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]
Hyperactivity
  • Perhaps fiber necrosis may be secondary to a defect in sarcomeric regulation with accumulation of fiber degradation products and possible lysosomal hyperactivity.[bmcclinpathol.biomedcentral.com]
Ataxia
  • He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. MJD is now the most common autosomal domiant spinocerebellar ataxia world-wide. Dr.[books.google.de]

Workup

  • […] molecular diagnosis is not worldwide available, and since a huge clinical variability can be observed in all forms of LGMDs, protein techniques with commercially available anti-telethonin antibodies should be introduced in a routine basis in the diagnostic workup[bmcclinpathol.biomedcentral.com]
  • 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

  • The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.com]
  • Victor Dubowitz, who skillfully guides you through the complexities of pathologic diagnoses and their implications for clinical treatment.[books.google.de]
  • 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]
  • […] 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]

Prognosis

  • Appropriate diagnosis in these cases is important for genetic counseling and prognosis.[bmcclinpathol.biomedcentral.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]

Etiology

  • 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. [ 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]

Epidemiology

  • Relevant External Links for TCAP Genetic Association Database (GAD) TCAP Human Genome Epidemiology (HuGE) Navigator TCAP Atlas of Genetics and Cytogenetics in Oncology and Haematology: TCAP No data available for Genatlas for TCAP Gene Tcap gene mutations[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]
  • 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]
  • 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

  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.de]
  • You agree to immediately notify us in the event you determine, or have reason to believe, that an unauthorized party has gained access to the Materials and to take all reasonable steps, both to ensure that such activity ceases and to prevent any recurrence[pediatriccare.solutions.aap.org]
  • Management [ 2 ] There is no specific therapy for LGMD. [ 14 ] Nondrug treatment Physiotherapy to prevent contractures, using passive stretching, exercise therapy, orthoses. [ 15 ] Exercise - the role of exercise in LGMD is controversial, but guidelines[patient.info]
  • Orthopedic surgery may be needed to help correct or prevent contractures and scoliosis. See Treatment and Medication for more detail.[emedicine.medscape.com]
  • With widespread use of genetic tests, genetic counseling, antenatal diagnosis, and preventive measures are expected to be in the forefront in the coming years. Financial support and sponsorship Nil.[annalsofian.org]

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