Unknown pathology

[phunphysio]

Ok so after researching for nearly 2 days I have come up with a possible diagnoses of Bethlem Myopathy~ has anyone seen this condition in the paediatric world? Am I expecting the finger contractures to be as bad as they are at such a young age? I have managed to convince the Paediatrician that the child wasnt just resisting them, that these were geniuine contractures and have a referral to the specialist on it's way. If Bethlem Myopathy I want CK and Vit D on bloods, anything else?

[estherderu]

dear phunphysio,

Sorry been away and didn´t see your question.
Raoul Engelbert is THE person I know of that knows a lot about the problems surrounding hypomobility.

I think this was his first article on the subject
Pediatric Generalized Joint Hypomobility and Musculoskeletal Complaints: A New Entity? Clinical, Biochemical, and Osseal Characteristics -- Engelbert et al. 113 (4): 714 -- Pediatrics

I would check him up, or had you already found him?


A neighbour family with father and sons all restricted in their hands, as you mention. It was not disabilitating them so they never had the disorder checked. As far as I know it wasn´t progressive.

Esther