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Date: 5 April 2020
Ion channelopathy clinic
Channelopathies can present in a multitude of ways but this clinic focusses on the neurological disorders. These can affect brain, peripheral nerve and muscle. It was initially thought that these conditions were intermittent (paroxysmal) but clear examples of permanent symptoms with progressive deterioration over time have emerged. It is hoped that early recognition and diagnosis will lead to a reduction in any long term disability.
The skeletal muscle channelopathies include myotonia congenita, paramyotonia congenita and the periodic paralyses. The disorders present with muscle stiffness/locking with or without attacks of muscle weakness which may be associated with a high or low blood potassium (hyper- or hypo-kalaemic periodic paralysis). Very effective treatment is available for the majority of these conditions.
The brain channelopathies include rarities such as the episodic ataxias (intermittent loss of coordination) and familial epilepsies. Episodic ataxia type 2 (EA2) presents with prolonged attacks, migraine with or without progressive ataxia whereas episodic ataxia type 1 is associated with short-lived attacks with or without twitching of the muscles (neuromyotonia).
The clinic is run by Dr Nick Davies (Consultant Neurologist) with the support of neurophysiotherapists and a Consultant Neurophysiologist. Patients may require blood tests and occasionally scans and some electrical tests on the muscles.
A transition clinic (for ages 16 – 18) is also available at Birmingham Children’s Hospital which is run with Dr Tracy Willis (Consultant Paediatric Neurologist)and Dr Helen Roper (Consultant Paediatrician).
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