Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

William John Little had in many respects a unique career. He suffered childhood poliomyelitis with residual left lower extremity paraparesis, complicated by severe talipes. As a youth he was an apothecary's apprentice, surrendering his indentures at the age of 18 and entering medical school at the London Hospital. He was admitted to the Royal College of Surgeons in 1832. He later travelled to Germany to study the technique of subcutaneous tenotomy with its originator, Louis Stromeyer, who subsequently corrected Little's deformed foot by this method. His doctoral dissertation (1837) was the first monograph on tenotomy ever published, and he became the apostle of this operation for the correction of skeletal deformity secondary to neuromuscular disease. Little founded the Royal Orthopaedic Hospital of London. Among his many publications was "On the Deformities of the Human Frame" (1853) in which he first described pseudohypertrophic muscular dystrophy (antedating Duchenne's paper by eight years), as well as cerebral spastic palsy (Little's Disease). The techniques originated by Stromeyer and applied by Little are used today in the surgical management of muscular dystrophy. William Little was one of the first to bridge the gap between neurology and orthopaedics and his important work continues to impact on both these fields.
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PMID:Historical vignette #9. Little big man: the life and genius of William John Little (1810-1894). 306 Aug 8

Leukodystrophy with macrocephaly as the main features of infantile neurodegenerative disease are characteristics of Canavan's disease, L-2-hydroxyglutaric aciduria, type I glutaric aciduria, and Alexander's disease. Also occasionally described are occidental congenital muscular dystrophy, G(M)2-gangliosidosis, metachromatic leukodystrophy, Krabbe's disease, and mucopolysaccharidosis. Since 1995, over 60 patients with a new syndrome, vacuolating megalencephalic leukoencephalopathy, have been described. The syndrome is characterized by macrocephaly, a slowly progressive clinical course of ataxia, spastic paraparesis, and seizure disorder with relatively spared cognition. Unlike other leukodystrophies with macrocephaly (except Alexander's disease), no metabolic marker has been found. We describe a similar group of 12 patients from two different Jewish ethnic origins in whom consanguinity is prominent. These patients have neuroimaging features and magnetic resonance spectroscopy findings indicating that there is an initial increase in white-matter edema with subsequent cystic formation. Consistent with loss of tissue in these areas, brain metabolites are reduced. The familial incidence in this group of patients is suggestive of autosomal-recessive inheritance.
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PMID:Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. 1129 32

A 9-month old male Jack Russell Terrier started showing paraparesis of the hindlimbs after a walk. Hospitalized, the dog went into cardiac arrest, and later died. Necroscopic examination revealed a severe thickness of the diaphragm, esophagus, and base of the tongue, leading to the diagnosis of muscular dystrophy. The histology confirmed the marked size variation, regeneration, and fibrosis replacement of the skeletal muscle fibers. Immunohistochemistry demonstrated the absence of dystrophin confirming the diagnosis. Transmission electron microscopy showed disarrangement of skeletal muscle fibers. Finally, whole-genome sequencing identified a ~368kb deletion spanning 19 exons of the canine dystrophin (DMD) gene. This pathogenic loss-of-function variant most likely explains the observed disease phenotype. The X-chromosomal variant was absent in seven controls of the same breed. Most likely, this partial deletion of the DMD gene was either transmitted on the maternal path within the family of the affected dog or arose de novo. This study revealed a spontaneous partial deletion in DMD gene in a Jack Russell Terrier showing a Duchenne-type muscular dystrophy due to non-functional dystrophin.
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PMID:X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene. 3304 40