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)

The child that is slow to walk causes concern. When cerebral palsy, mental retardation and muscular dystrophy have been excluded, what remains? Thirty five children (19 boys and 16 girls) with hypermobile joints, blue sclera and bat ears (the 'lax ligament syndrome') were referred by general practitioners to a general paediatric outpatient clinic over two years. Three were referred in the first three months of life because of clicking hips; 14 children aged one to two years, had delayed milestones of motor development and exhibited bottom shuffling; 10 children aged four to five years presented with 'growing pains' or 'funny gait' and eight older children had multiple minor complaints. The lax ligament syndrome is a comparatively common mild collagenopathy. It may well come to light on routine surveillance in general practice. It is dominantly inherited and improves with time; management is therefore expectant and symptomatic. A firm and reassuring diagnosis can be given which saves both anxiety and investigations.
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PMID:Lax ligament syndrome in children associated with blue sclera and bat ears. 211 44

McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity. Signs and symptoms are often ignored in children or put down to 'growing pains' and thus diagnosis is often delayed. Misdiagnosis is not uncommon because several other conditions such as muscular dystrophy and muscle channelopathies can manifest with similar symptoms. A simple exercise test performed in the clinic can however help to identify patients by revealing the second wind phenomenon which is pathognomonic of the condition. Here a patient is reported illustrating the value of using a simple 12 minute walk test.
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PMID:From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease. 2505 87