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Muscular Dystrophy-Dystroglycanopathy Type C1

Limb-Girdle Muscular Dystrophy Type 2K


Presentation

  • 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]
  • FKRP and Large mutants do not present severe brain symptoms.[ncbi.nlm.nih.gov]
  • Only the first and second heart sounds were present. The lung fields were clear and the liver was not palpable.[chs-journal.com]
  • An algorithm has been presented to help the clinical evaluation [Algorithm 1].[annalsofian.org]
  • Reaching a diagnosis involves combining information from the clinical presentation and various investigations, mainly serum creatine kinase (CK), muscle biopsy and genetic testing.[patient.info]
Movement Disorder
  • 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]
Developmental Disabilities
  • This vast range of health conditions affects people across the life course, from developmental disabilities in childhood, to schizophrenia and substance abuse in adults, and dementia in old age.[books.google.com]
Thrombosis
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.com]
Encephalopathy
  • Metabolic Disorders of the White Matter E-1690 100 Acquired Disorders Affecting the White Matter E-1725 101 Disorders of Consciousness in Children E-1741 102 Traumatic Brain Injury in Children E-1774 103 Abusive Head Trauma E-1821 104 HypoxicIschemic Encephalopathy[books.google.com]
  • (PAFAH1B1) MITOCHONDRIAL DISORDERS (NUCLEAR GENES) Progressive external ophthalmoplegia, with mtDNA deletions, autosomal dominant 1 (POLG) Progressive external ophthalmoplegia, with mtDNA deletions, autosomal recessive (POLG) Alpers syndrome (POLG) Encephalopathy[meduniwien.ac.at]
Peripheral Neuropathy
  • Neuropathies E-2400 142 Acquired Peripheral Neuropathies E-2419 143 Inflammatory Neuropathies E-2436 144 Congenital Myasthenic Syndromes E-2451 145 Acquired Disorders of the Neuromuscular Junction E-2462 146 Duchenne and Becker Muscular Dystrophies E[books.google.com]
  • Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V (1995) Demyelinating peripheral neuropathy in merosindeficient congenital muscular dystrophy. J Child Neurol 10: 472–475 PubMed CrossRef Google Scholar 145.[link.springer.com]
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]
Neurologic Manifestation
  • Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric[books.google.com]

Treatment

  • 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]
  • 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]
  • […] strength 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

  • 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]
  • 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

  • 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

  • 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • Most likely the depletion of the O-mannosyl glycans prevents the normal interaction between α-dystroglycan and laminin-α2, and this disturbance reduces the α-dystroglycan stability.[ncbi.nlm.nih.gov]
  • 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]

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