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Dyspnoea-fasciculation syndrome lsquothe clue is in the titlersquo
James Rigby1 Andrew Holton2 Jonathan Partridge3 Duwarakan Satchithananda1
1Department of Cardiology University Hospital of North Staffordshire Stoke-on-Trent UK2Department of Neurophysiology University Hospital of North Staffordshire Stoke-on-Trent UK3Department of Neurology University Hospital of North Staffordshire Stoke-on-Trent UK
Correspondence to Dr James Rigby jamesrigby1hotmailcouk
DESCRIPTIONA non-smoking 71-year-old man had suffered myocardialinfarction 6 years back After a circumflex angioplasty heremained asymptomatic with moderately impaired leftventricular function This was unchanged when he pre-sented with 6 monthsrsquo progressive breathlessness andorthopnoea but no chest pain There was insufficientevidence on CT to explain his restrictive spirometryA diagnostic coronary angiography was arranged but soonabandoned when he developed pulmonary oedema while
recumbent Frequent fasciculations were noted (video 1)The pulmonary oedema resolved with treatment but histype II respiratory failure and orthopnoea persistedTroponin was not raised
Retaking the history revealed 3 monthsrsquo weight lossalongside general weakness He had noticed he was not ableto lift his arms Over the last 4 months there had been pro-gressive loss of speech articulation cramps in hands and dif-ficulty in arising from a chair Ankle jerks were absent
Clinical neurophysiology revealed sensory responsesgenerally absent or reduced as were the lower limb motorresponses Motor response in his right hand was notaugmented after a 10 s maximal contraction (againstLambert-Eaton myasthenia) There was no decrement inrepetitive nerve stimulation A concentric needle electro-myography (EMG) (table 1) identified an active denerv-ation in upper and lower limbs extending into thecranially innervated territory Notwithstanding theaxonal-type polyneuropathy disproportionate diffusemotor axonal loss supported amyotrophic lateral sclerosis
Symptoms improved with non-invasive ventilationsuggesting pulmonary oedema had arisen from insuffi-cient respiratory excursion while recumbent Dyspnoeandashfasciculation syndrome is a presentation of AmyotrophicLateral Sclerosis1 Type II respiratory failure from weak-ness can underlie orthopnoea in our case exacerbatedwhen supine for cardiac catheterisation
Video 1 Fasciculations in the latissimus dorsi muscle when thepatient was lying supine during cardiac catheterisation
Table 1 Findings of concentric needle electromyography that supports the diagnosis of motor neuron disease
Maximum effort
Muscle Spontaneous activity Motor units Number Maximum size (mV)
Right tibialis anterior Fasciculations 3+Positive sharp waves 3+fibrillations 2+
Long-duration polyphasic units Discrete 4
Left tibialis anterior Fasciculations 3+Positive sharp waves 1+Fibrillations 2+
Long-duration polyphasic units Discrete 4
Right vastus lateralis Fasciculations 3+Fibrillations 2+
Long-duration polyphasic units Reduced 25
Right first dorsal interosseous Fasciculations 4+ Long-duration polyphasic units Discrete 4Right biceps brachii Fasciculations 3+ Long-duration polyphasic units Reduced 4Right trapezius Fasciculations 2+ Long-duration polyphasic units Discrete 1
BMJ Case Reports 2012 doi101136bcr-2012-007357 1 of 2
Learning points
Though breathlessness is a single reported symptomit can be caused by many individual processes
Orthopnoea should not be assumed to be due to aheart failure without a detailed clinical evaluationOrthopnoea associated with worsening type IIrespiratory failure might be neuromuscular ormechanical until proven otherwise
Multiple (and often invasive) investigations are anunacceptable substitute for clinical re-evaluationmdashincluding a comprehensive history andexaminationmdashirrespective of the perceived timeconstraints of increasingly busy medical clinics
Competing interests None
Patient consent Obtained
REFERENCE1 Scelsa SN Yakubov B Salzman SH Dyspnea-fasciculation syndrome early
respiratory failure in ALS with minimal motor signs Amyotroph Lateral SclerOther Motor Neuron Disord 20023239ndash43
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Please cite this article as follows (you will need to access the article online to obtain the date of publication)
Rigby J Holton A Partridge J Satchithananda D Dyspnoea-fasciculation syndrome lsquothe clue is in the titlersquoBMJ Case Reports 2012101136bcr-2012-007357 Published XXX
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2 of 2 BMJ Case Reports 2012 doi101136bcr-2012-007357
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