Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.com]

Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable. [chs-journal.com]

It usually presents within the first decade of life. The most common presenting complaint is primarily myalgia, followed by ‘rippling muscles’ and proximal muscle weakness [ 68 ]. [content.iospress.com]

An algorithm has been presented to help the clinical evaluation [Algorithm 1]. [annalsofian.org]

The mean age at onset in the present study was 15.5 years. [neurologyindia.com]

• Cerebral Palsy

  94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100 [books.google.com]

• Neurologic Manifestation

  Complications of Immunization E-2132 118 Paraneoplastic Neurologic Syndromes E-2142 119 ImmuneMediated Epilepsy Movement Disorders and Hashimotos Encephalopathy in Children E-2150 120 Opsoclonus Myoclonus Syndrome E-2158 121 Neurologic Manifestations [books.google.com]

Several rare forms are inherited in an autosomal dominant pattern. [2] While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. [3] There are at least [rarediseases.info.nih.gov]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

"Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies". Neurology. 83 (16): 1453–1463. doi : 10.1212/WNL.0000000000000892. ISSN 0028-3878. PMC 4206155. [en.wikipedia.org]

Medical management section addresses diagnosis, treatment, and prognosis for each condition discussed. [books.google.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]

[…] corticosteroids in LGMD 2C-F individuals, shows some improvement [9] Additionally individuals can follow management that follows: [3] Occupational therapy Respiratory therapy Speech therapy Neutralizing antibody to myostatin should not be pursued In terms of the prognosis [en.wikipedia.org]

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 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]

Boito et al ., had studied 214 patients with LGMD of unknown etiology. [neurologyindia.com]

Progeria-associated arthropathy Synonym(s): - CMD with intellectual disability - CMD-MR Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Internationale statistische Klassifikation der Krankheiten und verwandter Gesundheitsprobleme – The International Classification of Diseases is the international standard diagnostic tool for epidemiology, health management and clinical purposes. [wikivisually.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]

Classification and epidemiology All form of LGMD are inherited autosomally and the classification is alphanumeric with assignation of number ‘1’ or ‘2’ depending on whether they are inherited dominantly or recessively. [content.iospress.com]

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]

^ a b c d "Limb-Girdle Muscular Dystrophy: Practice Essentials, Background, Pathophysiology". [en.wikipedia.org]

Snider L, Asawachaicharn A, Tyler AE et al. (2009) RNA transcripts, miRNA-sized fragments, and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. [link.springer.com]

This would entail close surveillance to recognize symptoms and to prevent detrimental sequelae. 2. [pubs.sciepub.com]

However, the American Academy of Neurology has developed guidelines for treatment of LGMD including: [5] [6] Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures (fixed tightening of the [rarediseases.info.nih.gov]

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]

Chartier A, Raz V, Sterrenburg E, Verrips CT, van der Maarel SM, Simonelig M (2009) Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo. [link.springer.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]