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End of life care policy in the UK advocates open discussions between health professionals and patients as the end of life approaches. Despite well documented understanding of the progression of life-limiting neuromuscular diseases, the majority of patients affected by such conditions die without a formal end of life plan in place. We performed a systematic review to investigate conversations regarding end of life care between healthcare professionals and younger adult patients with life-limiting neuromuscular diseases. The search strategy included terms that focused on death and dying along with other factors that could impact length of life. The review found a very limited body of literature regarding end of life care conversations between young people affected by neuromuscular diseases and health professionals. The views and preferences of patients themselves have not been investigated. There is a shared reluctance of patients, family carers and healthcare professionals to initiate end of life care discussions. There are many factors that need to be investigated further in order to develop a consensus that would allow healthcare professionals to engage patients in end of life care conversations allowing them to face the end of their lives with appropriate plans in place.

Congenital myasthenic syndromes due to DOK7 mutations cause fatigable limb girdle weakness. Treatment with ephedrine improves muscle strength. Salbutamol, a β(2)-adrenergic receptor agonist with fewer side effects and more readily available, has been effective in adult and anecdotal childhood cases. This study reports the effects of salbutamol on motor function in childhood DOK7 congenital myasthenic syndrome. Nine children (age range 5.9-15.1years) were treated with oral salbutamol, 2-4mg TDS. The effect on timed tests of motor function, pre- and up to 28months post-treatment, was audited retrospectively. All 9 reported functional benefit within 1month, with progressive improvement to a plateau at 12-18months. Within the first month, all 3 non-ambulant children resumed walking with assistance. Although improvements were seen in some timed tests (timed 10m, arm raise time, 6min walk time) this did not fully reflect the observed functional benefits in daily living activities. No major side effects were reported. We conclude that oral salbutamol treatment significantly improves strength in children with DOK7 congenital myasthenic syndrome and is well tolerated. Outcome measures need to be refined further, both to accurately reflect functional abilities in children and to document progress and treatment response.

Objective. Repetitive transcranial magnetic stimulation (rTMS) of the lesioned hemisphere might enhance motor recovery after stroke, but the appropriate dose (parameters of rTMS) remains uncertain. The present review collates evidence of the effect of rTMS on corticospinal pathway excitability and motor function in healthy adults and in people after stroke. Methods. The authors searched MEDLINE and EMBASE (1996 to April 2007), their own collection of peer-reviewed articles, and the reference lists of included studies. They included healthy adults or people with stroke who received rTMS to the primary motor cortex to facilitate or inhibit contralateral corticospinal excitability or movement control. Findings. Of the 625 references identified, 37 studies were included with 455 healthy adults (34 studies) and 69 people with stroke (3 studies). For healthy adults, the effects of rTMS on corticospinal pathway excitability varied within each frequency, for example, 1 Hz rTMS was found to facilitate, inhibit, and have no effect on amplitude of motor-evoked potentials (MEPs). After stroke there was a trend for recovery of MEPs (ie, presence of MEPs) after 10 daily sessions of 3 Hz rTMS (one study). Motor function in healthy adults might be adversely affected by 1 Hz rTMS (two studies), whereas combined frequency rTMS was found to have no effect (one study). Interpretation. There is as yet insufficient published evidence to guide the dose of rTMS to the lesioned hemisphere after stroke to improve recovery of a paretic limb. Moreover, it is apparent that there is variability in response to rTMS in healthy adults. Dose-finding studies in groups of well-characterized stroke patients are needed.

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