|CI||Professor Michael Hanna|
|Sites||London Queen Square|
Hypo PP is the commonest muscle channelopathy. It is caused by mutations in the muscle sodium channels or calcium channels. From childhood, patients experience disabling episodes of complete muscle paralysis lasting hours to days.
In the early years patients recover between attacks. But over
time they develop a permanent fixed muscle weakness (myopathy) and often become
wheelchair bound. There are treatments which can reduce attack frequency.
But, we do not have sensitive methods to monitor disease activity or to determine if the treatment is fully effective.
Recent data show that the amount of water in the muscle may
be important for muscle function. Patients with higher abnormal water content
(oedema) have more weakness.
Preliminary published data show patients with less
oedema may have a better prognosis. Furthermore, we currently make decisions to
adjust standard treatments based on attack frequency only.
But, this may not be the best way to monitor actual disease activity in affected muscles.
to use MRI to assess abnormal muscle water content in Hypo PP patients.
MRI will be used in the context of the normal current clinical practice and management in this patient group.
This study has two phases. The first phase is a period of
MRI technique refinement in up to 10 healthy volunteers lasting up to two
The main study phase is a longitudinal case control study. Assessments will be repeated at four weeks to see if any changes in clinical parameters are reflected in changes on MRI parameters.
At least 12 patients with HypoPP and 12 healthy volunteers as a comparison group for the patients.