Disease

Articles

• facioscapulohumeral muscular dystrophy
  13 October 2004

  FSHD

• multiminicore disease
  28 October 2003

  Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core lesions (known as "minicores") in most muscle fibers. MmD is a clinically heterogeneous condition, in which four subgroups have been distinguished.
  Prevalence is unknown. Marked clinical variability corresponds to genetic heterogeneity: the most instantly recognizable classic phenotype characterized by spinal rigidity, early scoliosis and respiratory impairment is (...)

• myotonic dystrophy
  22 September 2003

  Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, is a clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by autosomal dominant inheritance, muscular dystrophy, myotonia, and multisystem involvement.
  Etiology
  Type 1 DM (DM1) is caused by a (CTG)(n) expansion in the 3’ untranslated region of the DMPK gene in 19q13.3.
  Type 2 DM (DM2) but without the DM1 mutation, showed linkage to the 3q21 region and were recently shown to (...)

• Bethlem myopathy
  24 January 2005

  Dominantly inherited mild diease associating congenital muscle weakness, proximal joint contractures and marked distal joint hyperextensibility. Bethlem myopathy shows clear dominant inheritance and is caused by heterozygous mutations in COL6A1, COL6A2 and COL6A3.
  Etiology
  heterozygous mutations in COL6s collagen genes (COL6A1, COL6A2 and COL6A3)

• centronuclear myopathy
  1 March 2006

  centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting.
  The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties.
  Ptosis and limitation of eye movements occur frequently.
  The most prominent (...)

• Duchenne muscular dystrophy
  14 November 2003

  Duchenne muscular dystrophy (DMD) is an x-linked recessive disorder, primarily characterized by progressive muscle weakness and wasting.
  The disease results from the absence of dystrophin (DMD; MIM.300377), however the precise molecular mechanisms leading to muscle pathology are poorly understood.
  The dystrophin complex has two functions: a structural role in maintaining sarcolemmal integrity during contraction and a scaffolding function that recruits signaling proteins such as neuronal (...)

• myoclonus-dystonia
  7 October 2003

  Myoclonus-dystonia is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements. The mode of inheritance is autosomal dominant with reduced penetrance upon maternal transmission, suggesting a putative maternal imprinting mechanism.
  Etiology
  mutations in the epsilon-sarcoglycan gene (SGCE)
  Références: #12444570#

• Ullrich congenital muscular dystrophy
  23 September 2003

  Ullrich’s congenital muscular dystrophy, UCMD, scleroatonic muscular dystrophy

• Barrett esophagus
  29 October 2003

  Barrett’s oesophagus, Barrett oesophagus, Barrett’s esophagus; Barrett mucosa; Barrett metaplasia; metaplastic endobrachyesophagus
  See also : endobrachyesophagus
  Images
  PAS and Alcian Blue stain in Barrett esophagus
  https://twitter.com/suraksharaob/status/763422410494185472
  http://www.webpathology.com/case.asp?case=185
  adenocarcinoma in Barrett esophagus mucosa
  https://twitter.com/ARP_Press/status/731118754193674240
  Links
  at Johns Hopkins Pathology (...)

• lichen striatus
  17 June 2004

  Images
  Lichen striatus (lichenoid inflammation and perieccrine inflammation ) https://twitter.com/faisalmohammedi/status/834896649977802754 https://twitter.com/GBRainwater/status/854350881856344067
  Synopsis
  lichenoid inflammation
  peri-eccrine inflammation / peri-eccrine lymphocytic infiltrate
  DIFFERENTIAL:
  linear lichen planus
  lichen niditus
  inflammatory linear verrucous epidermal (...)

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