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The management of motor neurone disease (MND) has evolved rapidly over the last two decades. Although still incurable, MND is not untreatable. From an attitude of nihilism, treatments and interventions that prolong survival have been developed. These treatments do not, however, arrest progression or reverse weakness. They raise difficult practical and ethical questions about quality of life, choice, and end of life decisions. Coordinated multidisciplinary care is the cornerstone of management and evidence supporting this approach, and for symptomatic treatment, is growing.1–3 Hospital based, community rehabilitation teams and palliative care teams can work effectively together, shifting emphasis and changing roles as the needs of the individuals affected by MND evolve. In the UK, MND care centres and regional networks of multidisciplinary teams are being established. Similar networks of MND centres exist in many other European countries and in North America. Here, we review current practice in relation to diagnosis, genetic counselling, the relief of common symptoms, multidisciplinary care, the place of gastrostomy and assisted ventilation, the use of riluzole, and end of life issues. View this table: Table 1 Clinical syndromes of MND (ALS—amyotrophic lateral sclerosis) and related disorders (modified from Kato et al , 2003*, with permission) The average delay from onset of symptoms to diagnosis is about 14 months, about one third of expected survival. Occasionally, survival following diagnosis may be less than six months. The patient may already suspect the diagnosis …

OBJECTIVES—Neuropsychological investigations have shown a degree of cognitive dysfunction in a proportion of non-demented patients with ALS. Respiratory muscle weakness in ALS can lead to nocturnal hypoventilation, resulting in sleep disturbance and daytime somnolence. Sleep deprivation of this type may cause impairments in cognitive function, but this has not been formally evaluated in ALS. METHODS—Cognitive functioning was evaluated in nine patients with ALS with sleep disturbance caused by nocturnal hypoventilation (NIPPV group), and in a comparison group of 10 similar patients without ventilation problems (control group). The NIPPV group then started non-invasive positive pressure ventilation (NIPPV) at night. After about 6 weeks, change in cognitive function was evaluated. RESULTS—Statistically significant improvement in scores on two of the seven cognitive tests was demonstrated in the NIPPV group postventilation, and a trend towards significant improvement was found for two further tests. Scores in the control group did not improve significantly for these four tests, although an improvement was found on one other test. CONCLUSIONS—Nocturnal hypoventilation and sleep disturbance may cause cognitive dysfunction in ALS. These deficits may be partially improved by NIPPV over a 6 week period. This has important implications for investigations of both cognitive dysfunction in non-demented patients with ALS, and the effect of ventilation on quality of life.

BACKGROUND—Diaphragm function can be assessed by electromyography of the diaphragm during electrical phrenic nerve stimulation (ES). Whether phrenic nerve conduction time (PNCT) and diaphragm electrical activity can be reliably measured from chest wall electrodes with ES is uncertain. METHODS—The diaphragm compound muscle action potential (CMAP) was recorded using an oesophageal electrode and lower chest wall electrodes during ES in six normal subjects. Two patients with bilateral diaphragm paralysis were also studied. Stimulations were deliberately given in a manner designed to avoid or incur co-activation of the brachial plexus. RESULTS—For the oesophageal electrode the PNCT was similar with both stimulation techniques with mean (SE) values of 7.1 (0.2) and 6.8 (0.2) ms, respectively (pooled left and right values). However, for surface electrodes the PNCT was substantially shorter when the brachial plexus was activated (4.4 (0.1) ms) than when it was not (7.4 (0.2) ms) (mean difference 3.0 ms, 95% CI 2.7 to 3.4, p

Motor neurone disease (MND) is a devastating and progressive neurological disorder in which degeneration of motor neurones results in weakness and wasting of the dependent muscles. The prevalence of MND is approximately five per 100 000 and approximately 30% of patients have primary bulbar symptoms.1 Half of the patients die within 36 months of experiencing the first symptom. Presentation with ventilatory failure is recognised but uncommon,2 occurring in less than 5% of cases3; however, abnormalities of respiratory muscle function are frequently detectable.4 5 As the condition progresses respiratory muscle strength diminishes4 6; indeed, the rate of change in respiratory function is the only measurable parameter which predicts survival.1 When the load placed on the respiratory muscle pump exceeds the capacity of the respiratory muscles, then the patient is at risk of ventilatory failure. Initially abnormalities may be present only in sleep7 or on exercise8 but, frequently, established ventilatory failure ensues. Ventilatory failure is usually manifest by dyspnoea which may be worse on lying flat (if diaphragm weakness is prominent) or sitting upright (if expiratory muscle weakness predominates). More commonly there is generalised weakness and then there are no clear cut postural symptoms. Direct questioning may elicit symptoms suggestive of disordered sleep architecture—for example, daytime somnolence, difficulty concentrating, or “respiratory” nightmares—or carbon dioxide retention—for example, morning headache. Examination may show paradoxical abdominal motion during respiration. This indicates substantial diaphragm weakness9 combined with preservation of enough upper thoracic musculature to generate sufficient negative intrathoracic pressure to cause inward abdominal motion. In more advanced disease paradoxical motion may be difficult to elicit and the patient may simply appear tachypnoeic without useful rib cage movement. In established MND patients may also complain of choking symptoms; most commonly this represents swallowing difficulties. However, if unrelated …

Objective This study set out to investigate the relationship between mood and physical and psychological factors in amyotrophic lateral sclerosis (ALS). Method As part of a longitudinal study investigating decision-making in ALS, 69 ALS patients, recruited from the South East ALS register, were assessed at baseline on measures of mood (Beck Depression Inventory Fast Screen), purpose in life (Purpose in Life Scale) and illness perceptions (Brief Illness Perceptions Questionnaire). Demographic and illness characteristics were also recorded. Hierarchical multiple regression was used to determine the extent to which psychological variables (purpose in life; and illness perceptions—consisting of perceived consequences of illness, personal control, identity, concern and emotions) predicted mood, after accounting for the effects of demographic (age, years of education) and illness characteristics (symptom severity, measured by ALSFRS-R). Results 42.0% of patients exceeded the recommended clinical cut-off score on the BDI-Fast Screen, suggestive of depression, although most of these (34.8% of the total sample) fell in the mild range. Multiple regression showed that psychological variables (purpose in life and illness perceptions) explained an additional 42% (adjusted R 2 =0.406) of the variance in mood, over and above that explained by demographic and illness characteristics, which only explained a total of 7% of the variance. In the final model, purpose in life was the only statistically significant predictor of mood among ALS patients. Conclusion Purpose in life, based on the work of Frankl (1959), refers to the degree to which a person experiences a sense of meaning in life and includes, for example, having goals to strive for and relationships to maintain (Hedberg et al , 2011; White, 2004). Frankl (1958) suggested that a lack of purpose in life can weaken the will to confront life situations, producing an “existential vacuum” and resulting in depression and anxiety (Hedberg et al , 2011). Current results suggest that purpose in life may play a more significant role in influencing mood among ALS patients than the beliefs about their illness or the severity of their physical symptoms. Findings, therefore, emphasise the importance of understanding psychological factors leading to risk of mental health problems in this population, and ultimately their relation to prognosis and treatment choices. Funding This study is funded by the MNDA, UK.