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Erb Muscular Dystrophy

Erb's Muscular Dystrophy


Presentation

  • With the present work, it is proposed a new approach for the LGMD2A diagnostic analysis, combining molecular genetics and protein analysis methodologies in order to contribute to a differential diagnostic essential for global characterization of patients[repositorio.insa.pt]
  • This is why they have a very different clinical presentation.[journals.lww.com]
  • Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.[icd10data.com]
  • LGMD2J (titinopathy) This form of LGMD occurs when two titin gene mutations are present and has a variable age of onset ranging from 10-30 years. Affected individuals have severe progressive proximal muscle weakness.[rarediseases.org]
  • Three patients needed trunk orthesis to improve their postural balance and try to slow down the rachitic deformity presented, while waiting for an arthrodesis.[elsevier.es]
Weakness
  • Symptoms - Muscular dystrophy limb girdle type 2A- Erb type Muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle.[checkorphan.org]
  • Weakness of the hip and upper leg muscles may cause a distinctive waddling gait. Eventually, muscle weakness affects the muscles of the upper arms and shoulders (limb-girdle area).[rarediseases.org]
  • […] and deformity Progressive muscle weakness and atrophy caused by deficient dystrophin protein Muscular dystrophy refers to any one of a group of muscle diseases in which there is a recognizable pattern of inheritance They are marked by weakness and wasting[seslisozluk.net]
  • Muscle weakness, however, is usually minimal.[msdmanuals.com]
  • Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.[ninds.nih.gov]
Disability
  • The disability experienced by patients is fairly minimal, although frozen shoulder syndrome may significantly alter function if it is bilateral. Intellectual deterioration and cardiac involvement are rare.[checkorphan.org]
  • Some children with MD die in infancy while others live into adulthood with only moderate disability.[ninds.nih.gov]
  • In one form that develops in infancy, children have rapidly progressive muscle weakness and severe disability.[msdmanuals.com]
  • Crippling disability Contractures Pneumonia Arrhythmias Cardiac hypertrophy Dysphagia Spinal deformity Fractures Speech impairment Sensorineural hearing loss (Landouzy-Dejerine type) Evidence of genetic transmission Progressive muscle weakness Assessment-Duchenne[quizlet.com]
  • Others cases are disabling and severe.[icdlist.com]
Falling
  • Symptoms, including frequent falls and difficulty in standing up, start in boys 3-7 years old; muscle wasting progresses from the legs to the arms and then the diaphragm.[seslisozluk.net]
  • Affected children may exhibit a distinct waddling gait and may fall frequently. They may also experience difficulty running and climbing stairs. Respiratory problems have been reported with this form of LGMD, but heart abnormalities have not been.[rarediseases.org]
  • […] prominently impaired More growth (1" per year) than with daily prednisone Daily dosing Dose: 0.75 mg/kg/day starting dose Less optimal benefit:risk ratio than weekly regimen Effects of treatment Walking: Prolonged by 2 to 5 years Strength: Increased Falling[neuromuscular.wustl.edu]
Heart Failure
  • Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Adult Cardiomyopathy, Dilated / complications*, drug therapy Heart Auscultation* Heart Failure / complications* Heart Murmurs* Humans Male Muscular Dystrophies[biomedsearch.com]
  • The overall survival of these patients is 20 to 30 years, and they die because of ventilatory failure in 90% of the cases and 10% due to heart failure. 5,7,8 After 30 years, over 90% of the patients with Duchenne present cardiac involvement. 5 The characteristic[journals.lww.com]
  • Cardiomyopathy is a progressive condition that may result in an impaired ability of the heart to pump blood; fatigue; heart block; irregular heartbeats (arrhythmias) and, potentially, heart failure.[rarediseases.org]
Heart Murmur
  • Export Citation: APA/MLA Format Download EndNote Download BibTex MeSH Terms Descriptor/Qualifier: Adult Cardiomyopathy, Dilated / complications*, drug therapy Heart Auscultation* Heart Failure / complications* Heart Murmurs* Humans Male Muscular Dystrophies[biomedsearch.com]
Muscle Weakness
  • Symptoms - Muscular dystrophy limb girdle type 2A- Erb type Muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle.[checkorphan.org]
  • Muscle weakness may be associated with soreness in the muscles and joint pain.[rarediseases.org]
  • Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.[ninds.nih.gov]
  • Muscle weakness, however, is usually minimal.[msdmanuals.com]
  • They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are.[icdlist.com]
Muscle Weakness
  • Symptoms - Muscular dystrophy limb girdle type 2A- Erb type Muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle.[checkorphan.org]
  • Muscle weakness may be associated with soreness in the muscles and joint pain.[rarediseases.org]
  • Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.[ninds.nih.gov]
  • Muscle weakness, however, is usually minimal.[msdmanuals.com]
  • They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are.[icdlist.com]
Myopathy
  • […] syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan[en.wikipedia.org]
  • , ocular Mitochondrial ocular myopathy Muscular dystrophy Muscular dystrophy, distal Muscular dystrophy, Duchenne Muscular dystrophy, Emery Dreifuss Muscular dystrophy, Erbs Muscular dystrophy, facioscapulohumeral Muscular dystrophy, hereditary progressive[icd9data.com]
  • Observations on myopathy. Proc R Soc Med. 1922. 16:1.[emedicine.medscape.com]
  • LGMD2B is caused by mutations of a gene that also causes Miyoshi myopathy a rare muscle disorder characterized by weakness of the distal muscles of the legs and arms.[rarediseases.org]
  • Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.[ncbi.nlm.nih.gov]
Myopathy
  • […] syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan[en.wikipedia.org]
  • , ocular Mitochondrial ocular myopathy Muscular dystrophy Muscular dystrophy, distal Muscular dystrophy, Duchenne Muscular dystrophy, Emery Dreifuss Muscular dystrophy, Erbs Muscular dystrophy, facioscapulohumeral Muscular dystrophy, hereditary progressive[icd9data.com]
  • Observations on myopathy. Proc R Soc Med. 1922. 16:1.[emedicine.medscape.com]
  • LGMD2B is caused by mutations of a gene that also causes Miyoshi myopathy a rare muscle disorder characterized by weakness of the distal muscles of the legs and arms.[rarediseases.org]
  • Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.[ncbi.nlm.nih.gov]
Muscular Atrophy
  • At that time, the differentiation between the spinal muscular atrophies and weakness associated with central nervous system disorders and primary muscle disease had not been established.[emedicine.medscape.com]
  • A heterogeneous group of genetic disorders characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.[icd10data.com]
  • atrophy • proximal weakness • onset of weakness is earlier in childhood • absent deep tendon reflexes and fasciculations • CPK levels are normal • pseudohypertrophy is absent Emery-Dreifuss dystrophy • similar clinical picture • no calf pseudohypertrophy[orthobullets.com]
  • Spinal Muscular Atrophy Resources (including Werdnig-Hoffman Disease and Kugelberg-Welander Disease) Note : The following resources have links to numerous online resources on a variety of neuromuscular diagnoses, not just the diagnosis implyed by their[kumc.edu]
Suggestibility
  • The integration of clinical, radiological and phonocardiographic data with respiratory and postural changes of the murmur have suggested the correct diagnosis that has been further confirmed by the response to nifedipine.[biomedsearch.com]
  • A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.[ncbi.nlm.nih.gov]
  • Meryon subsequently wrote a comprehensive monograph on MD and even went on to suggest that a sarcolemmal defect was at the root of the disorder.[emedicine.medscape.com]
  • Practical suggestions for the anesthetic management of a myotonic dystrophy patient. Myotonic dystrophy foundation toolkit. 2013. 47. Muenster T, Mueller C, Forst J, et al.[journals.lww.com]
Paresis
  • However, keep in mind that these patients are more sensitive to the effects of opiates (systemic and neuraxial) and therefore present a higher risk of respiratory depression, exacerbated gastrointestinal paresis, and increased risk of reflux, aspiration[journals.lww.com]

Workup

  • Lack of dystrophin leads to cellular instability at these links, with progressive leakage of intracellular components; this results in the high levels of creatine phosphokinase (CPK) noted on routine blood workup of patients with Duchenne MD.[emedicine.medscape.com]
Pericardial Effusion
  • National Library of Medicine Previous Document: Echocardiographic evaluation of pericardial effusion in acute myocardial infarct Next Document: Level of knowledge on cardiovascular health in schools[biomedsearch.com]

Treatment

  • Treatment - Muscular dystrophy limb girdle type 2A- Erb type Not supplied. Resources - Muscular dystrophy limb girdle type 2A- Erb type Not supplied.[checkorphan.org]
  • Treatment There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery.[ninds.nih.gov]
  • The only treatment for muscle weakness is supportive measures, such as ankle braces (for footdrop) and other devices.[msdmanuals.com]
  • Moreover, 10 of the 12 participants in the clinical trial were still able to walk after four years of treatment as opposed to one out of thirteen in the "control group".[info-farmacia.com]

Prognosis

  • Prognosis - Muscular dystrophy limb girdle type 2A- Erb type Not supplied. Treatment - Muscular dystrophy limb girdle type 2A- Erb type Not supplied. Resources - Muscular dystrophy limb girdle type 2A- Erb type Not supplied.[checkorphan.org]
  • Prognosis The prognosis for people with MD varies according to the type and progression of the disorder.[ninds.nih.gov]
  • Review Topic QID: 3137 1 Given the poor prognosis, surgical treatment is not appropriate 2 Posterior spinal fusion should be performed before curve progresses beyond 30 degrees 3 Posterior spinal fusion should be performed if the curve progresses to greater[orthobullets.com]
  • Prognosis Despite modern advances in gene therapy and molecular biology, MD remains incurable.[emedicine.medscape.com]

Etiology

  • Conclusion: Muscular dystrophies are a heterogeneous group of diseases that share a common etiology due to direct injury of the muscle fiber with a progressive and systemic compromise.[journals.lww.com]
  • Etiology Classification of types of muscular dystrophy The etiology of MD is an abnormality in the genetic code for specific muscle proteins. [8] They all are classified according to the clinical phenotype, the pathology, and the mode of inheritance.[emedicine.medscape.com]
  • Thus, the concept of limb-girdle muscular dystrophy (LGMD) as a nosologic entity was challenged, and now it is fair to consider it a symptom complex that consists of at least 4 disorders with varied inheritance patterns and etiologies.[emedicine.medscape.com]
  • 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]

Epidemiology

  • Epidemiology Frequency United States Exact figures are not available. The frequency of limb-girdle muscular dystrophy in the general population cannot be estimated because of the heterogenous nature of this group of disorders (see Background).[emedicine.medscape.com]
  • […] cardiomyocytes have reduced threshold for development of sarcolemmal injury under mechanical stress Important location: Cardiomyocytes rather than cardiac vasculature 9 Also see: Cardiomyopathies Clinical types Dystrophinopathies: Manifesting female carriers 31 Epidemiology[neuromuscular.wustl.edu]
  • 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]
  • In distal MD, it is at the 2q12-14 loci. [12] Epidemiology United States statistics The incidence of MD varies, depending on the specific type of MD under consideration.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology Molecular genetics of limb-girdle muscular dystrophy (LGMD) Skeletal muscle consists of 2 major components: the sarcolemma and the sarcomeres.[emedicine.medscape.com]
  • […] in most; Rarely normal Dystrophinopathies: Cardiomyopathy 5 General features Nosology: X-linked Dilated Cardiomyopathy Onset: Commonly in teenage years Types: Dilated cardiomyopathy Hypertrophic Conduction defects Possible biomarker: ST2 32 Probable pathophysiology[neuromuscular.wustl.edu]
  • Pathophysiology Multiple proteins are involved in the complex interactions of the muscle membrane and extracellular environment.[emedicine.medscape.com]

Prevention

  • Prevention - Muscular dystrophy limb girdle type 2A- Erb type Physical therapy and stretching exercises can prevent contractures and muscle atrophy and thus help to slow disease progression.[checkorphan.org]
  • Allow for frequent rest periods; cluster care activities to prevent overtiring the patient.[quizlet.com]
  • Maintenance of function and prevention of contractures Treatment of limb-girdle dystrophy is focused on maintaining muscle function and preventing the muscles from freezing in permanent, flexed positions called contractures.[msdmanuals.com]
  • Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe.[icdlist.com]
  • 0.75 mg/kg/day) indications 5 to 7-year-old child with progressive disease goals to maintain ambulatory capacity as long as possible outcomes significant positive effect on disease progression acutely improves strength, slows progressive weakening, prevents[orthobullets.com]

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