http://austinpublishinggroup.com/austin-neurology/
Amyotrophic Lateral Sclerosis/Motor
Neurone Disease (ALS / MND) is a progressive disease of the nervous system
affecting primarily, but not exclusively, motor neurones. The cause is unknown,
but in 5-10% of cases there is a family history and there is increasing
evidence of a genetic basis for the disease, with an unknown provoking
environmental or other genetic involvement. Most people with ALS/MND
present with muscle weakness, in arms or legs, or as swallowing or speech
problems due to bulbar involvement. However a small proportion of people
present with respiratory muscle weakness often as an emergency when they
may even need ventilation, by non-invasive ventilation or invasive ventilation
with a tracheostomy.
These cases show the issues that may
arise when there is a misdiagnosis of symptoms, without a full assessment of
the person’s history, symptoms and signs. Increasingly patients may be seen as
presenting with a particular symptom complex which is considered to be related
to a particular diagnosis, without consideration of the whole patient and a
careful assessment of the situation. The names and details have been changed to
protect anonymity.
Mr M was a 70 year old man who had
suffered from heart failure since 1999 when he had undergone a coronary
arterial bypass graft. He had been seen on a regular basis by cardiology
services, including the specialist heart failure team. In September 2011 he was
seen with increasing dyspnoea, which he stated had been present for over a
year. His main symptom of waking at night was thought to be paroxysmal
nocturnal dyspnoea. At the end of January 2012 he was admitted to hospital with
shortness of breath on minimal exertion and was found to be in fast atrial
fibrillation. This was treated but the episodes continued.
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