RT Journal Article
SR Electronic
T1 Motor neurone disease: a practical update on diagnosis and management
JF Clinical Medicine
JO Clin Med
FD Royal College of Physicians
SP 252
OP 258
DO 10.7861/clinmedicine.10-3-252
VO 10
IS 3
A1 Pamela J Shaw
A1 Clare Wood-Allum
YR 2010
UL http://www.rcpjournals.org/content/10/3/252.abstract
AB Motor neurone disease (MND) is an adult-onset neurodegenerative disease which leads inexorably via weakness of limb, bulbar and respiratory muscles to death from respiratory failure three to five years later. Most MND is sporadic but approximately 10% is inherited. In exciting recent breakthroughs two new MND genes have been identified. Diagnosis is clinical and sometimes difficult – treatable mimics must be excluded before the diagnosis is ascribed. Riluzole prolongs life by only three to four months and is only available for the amyotrophic lateral sclerosis (ALS) form of MND. Management therefore properly focuses on symptom relief and the preservation of independence and quality of life. Malnutrition is a poor prognostic factor. In appropriate patients enteral feeding is recommended although its use has yet to be shown to improve survival. In ALS patients with respiratory failure and good or only moderately impaired bulbar function non-invasive positive pressure ventilation prolongs life and improves quality of life.