Dear members,
A patient (aged 14 years) with Thomsen's disease has asked me to collect
further information about this condition. Also known as Becker Disease
(progressive type) and Thomsen's Disease (non-progressive type), the
literature advises that MC features chloride channel dysfunction resulting
in muscle stiffness and delayed muscle relaxation (myotonia). The
condition appears to affect her skeletal muscles only, and there is
considerable muscle hypertrophy, particularly proximally. There appears
to be no generalised muscle weakness at this stage.
My patient resides in a rural/remote part of Australia, and,
understandably, her main concern at this time relates to how much more
muscle hypertrophy she can expect to develop during future years..... and
any related issues that may become apparent, eg. reduced joint ranges of
motion, muscle imbalances, weaknesses..
I would be grateful for any information you can share (however general),
any treatment experiences, knowledge of links to support groups, or perhaps
individuals with MC who may wish to be contacted.
Thank you in advance,
John
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