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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

Copyright 2012 BMJ Publishing Group All rights reserved For permission to reuse any of this content visithttpgroupbmjcomgrouprights-licensingpermissionsBMJ Case Report Fellows may re-use this article for personal use and teaching without any further permission

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

Become a Fellow of BMJ Case Reports today and you can Submit as many cases as you like Enjoy fast sympathetic peer review and rapid publication of accepted articles Access all the published articles Re-use any of the published material for personal use and teaching without further permission

For information on Institutional Fellowships contact consortiasalesbmjgroupcom

Visit casereportsbmjcom for more articles like this and to become a Fellow

2 of 2 BMJ Case Reports 2012 doi101136bcr-2012-007357

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

Copyright 2012 BMJ Publishing Group All rights reserved For permission to reuse any of this content visithttpgroupbmjcomgrouprights-licensingpermissionsBMJ Case Report Fellows may re-use this article for personal use and teaching without any further permission

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

Become a Fellow of BMJ Case Reports today and you can Submit as many cases as you like Enjoy fast sympathetic peer review and rapid publication of accepted articles Access all the published articles Re-use any of the published material for personal use and teaching without further permission

For information on Institutional Fellowships contact consortiasalesbmjgroupcom

Visit casereportsbmjcom for more articles like this and to become a Fellow

2 of 2 BMJ Case Reports 2012 doi101136bcr-2012-007357