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Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1B

LGMD1B


Presentation

  • […] due to lamin A/C deficiency Prevalence: 1-9 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Adolescent , Childhood ICD-10: G71.0 OMIM: 159001 181350 UMLS: C1834653 MeSH: - GARD: 10230 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]
  • […] recommended include a neurologist, cardiologist, occupational therapist, nutritionist, and genetic counselor. [1] Last updated: 12/19/2017 The long-term outlook for people affected by limb-girdle muscular dystrophy type 1B depends on the signs and symptoms present[rarediseases.info.nih.gov]
  • A 35-year-old man presents to his primary care physician's office for difficulty chewing and walking and mild musclar pain. He notices himself dragging his feet while walking and pain in his legs. He experiences stiffness in his jaw and his hands.[medbullets.com]
Virilization
  • […] glycogen phosphorylase deficiency Hepatocellular carcinoma, childhood-onset Hereditary chronic pancreatitis Idiopathic bronchiectasis Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Male infertility with normal virilization[csbg.cnb.csic.es]
Neglect
  • Despite this diversity, they all share many features: they are mostly mediated through brain dysfunction or abnormalities, are often chronic in course, typically benefit from multi-component interventions, and are amongst the most neglected conditions[books.google.com]

Workup

Sinus Arrest
  • Sinus arrest with junctional escape beats was noted. He was diagnosed as X-linked recessive EDMD (MIM 310300). A 28-yr-old female showed severe wasting and weakness of humeroperoneal muscles.[ncbi.nlm.nih.gov]

Treatment

  • Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders.[books.google.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]
  • 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]
  • Highlights the common features of many mental and neurological disorders Provides insights into potential "cross-over" methods of identification and treatment Includes chapters on the most frequently diagnosed mental and neurological challenges faced[books.google.com]
  • More detailed information about the symptoms, causes, and treatments of Limb-girdle muscular dystrophy type 2C is available below.[checkorphan.org]

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 - Limb-girdle muscular dystrophy- type 2C Patients may also present with elevated CK levels without weakness but with myalgia and cramps, distal weakness, hypertrophic cardiomyopathy, or rippling-muscle disease.[checkorphan.org]
  • Prognosis and management, therefore, are not uniform across the subtypes of LGMD2. Nonetheless, early identification of complications and risk factors is crucial.[mdfgauteng.org]
  • […] autosomal dominant mutation in DMPK gene on chromosome 19 leads to a CTG trinucleotide expansion Pathogenesis unclear, but it is believed that the abnormal mRNA transcript of DMPK impairs RNA splicing, which leads to missplicing of other RNA transcripts Prognosis[medbullets.com]
  • 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

  • […] consequences such as sustained muscle contraction (myotonia) muscle weakness cataracts frontal balding arrhythmias Epidemiology incidence most common type of muscular dystrophy in adults especially with European ancestry risk factors family history Etiology[medbullets.com]
  • 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 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 TNPO3 Genetic Association Database (GAD) TNPO3 Human Genome Epidemiology (HuGE) Navigator TNPO3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: TNPO3 No data available for Genatlas for TNPO3 Gene A human importin-beta[genecards.org]
  • Introduction Clinical definition a hereditary disorder that results in a number of clinical consequences such as sustained muscle contraction (myotonia) muscle weakness cataracts frontal balding arrhythmias Epidemiology incidence most common type of muscular[medbullets.com]
  • 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

  • Meune C, Berlo JH, VanAnselme F, Bonne G, Pinto YM, Duboc D (2006) Primary prevention of sudden death in patients with lamin A/C gene mutations.[link.springer.com]
  • Treatment options that may be recommended for people with LGMD1B may include: [1] Weight control to avoid obesity Physical therapy and stretching exercises to prevent contractures of the elbows Use of mechanical aids such as canes, walkers, and wheelchairs[rarediseases.info.nih.gov]
  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎[books.google.es]
  • Prevention - Limb-girdle muscular dystrophy- type 2C Not supplied. Diagnosis - Limb-girdle muscular dystrophy- type 2C Not supplied.[checkorphan.org]

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