Emergencies in motoneuron disease
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Genetic and acquired motor-neuron-disorders (MNDs) may undergo acute deterioration resulting in various emergency situations. This literature review aims at summarising and discussing current knowledge about emergencies in MNDs. Emergencies that have been reported in MND patients include: respiratory, bulbar, cardiac, septic, epileptic, psychiatric, pain-related, and traumatic emergencies. Emergencies due to respiratory insufficiency have the strongest impact on morbidity and mortality in MNDs. To optimise the management of emergencies in MNDs, it is recommended to discuss these topics with the patient prior to their occurrence. After informed consent, patients may indicate their decision by signing an advance directive as to how such emergencies should be managed in case they arise. Generally, treatment of emergencies in MNDs is not at variance from treatment of similar emergencies due to other causes, but some peculiarities need to be pointed out. It is concluded that patients with MNDs may experience various emergencies during the disease course. Management of these conditions should be discussed with the patient prior to their appearance. Management of these emergencies follows general guidelines, which widely vary between countries, and depend on the availability of a patient’s advance directive.
KeywordsAnterior horn cell disease Emergency Respiratory insufficiency Motoneuron disease Seizures Sepsis Takotsubo Artificial ventilation
Advance care planning
Amyotrophic lateral sclerosis
Bulbospinal muscular atrophy Kennedy
Brown–Vialetto–Van Laere syndrome
Familial amyotrophic lateral sclerosis
Forced vital capacity
Hereditary spastic paraplegias
Implantable cardioverter defibrillator
International League Against Epilepsy
Mechanically assisted coughing
Maximal expiratory pressure
Maximal inspiratory pressure
Motor neuron disease
Non-invasive positive pressure ventilation
Percutaneous, endoscopic gastrostomy
Rapid sequence induction
Sporadic amyotrophic lateral sclerosis
Spinal muscular atrophy
No funding was received.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All applicable international, national, and/or institutional guidelines for the care of patients were followed.
Statement of human and animal rights
This article does not contain any studies with human participants or animals performed by any of the authors.
Informed consent was obtained from all individual participants included in the study.
- 7.Kendall F, McCreary E, Provance P, Rodgers M, Romai W (2005) Muscles testing and function with posture and pain, 5th edn. Lippincott Williams & Wilkins, PhiladelphiaGoogle Scholar
- 19.Mitsumoto H, Davidson M, Moore D, Gad N, Brandis M, Ringel S, Rosenfeld J, Shefner JM, Strong MJ, Sufit R, Anderson FA, ALS CARE Study Group (2003) Percutaneous endoscopic gastrostomy (PEG) in patients with ALS and bulbar dysfunction. Amyotroph Lateral Scler Other Motor Neuron Disord 4:177–185CrossRefPubMedGoogle Scholar
- 20.Bath PM, Scutt P, Love J, Clavé P, Cohen D, Dziewas R, Iversen HK, Ledl C, Ragab S, Soda H, Warusevitane A, Woisard V, Hamdy S, Swallowing Treatment Using Pharyngeal Electrical Stimulation (STEPS) Trial Investigators (2016) Pharyngeal electrical stimulation for treatment of dysphagia in subacute stroke: a randomized controlled trial. Stroke 47:1562–1570CrossRefPubMedPubMedCentralGoogle Scholar
- 24.Massari FM, Tonella T, Tarsia P, Kirani S, Blasi F, Magrini F (2011) Tako-tsubo syndrome in a young man with amyotrophic lateral sclerosis. A case report. G Ital Cardiol (Rome) 12:388–391Google Scholar
- 43.Rubboli G, Veggiotti P, Pini A, Berardinelli A, Cantalupo G, Bertini E, Tiziano FD, D’Amico A, Piazza E, Abiusi E, Fiori S, Pasini E, Darra F, Gobbi G, Michelucci R (2015) Spinal muscular atrophy associated with progressive myoclonic epilepsy: a rare condition caused by mutations in ASAH1. Epilepsia 56:692–698CrossRefPubMedGoogle Scholar
- 49.Luigetti M, Quaranta D, Conte A, Piccininni C, Lattante S, Romano A, Silvestri G, Zollino M, Sabatelli M (2013) Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion. Amyotroph Lateral Scler Frontotemporal Degener 14:66–69CrossRefPubMedGoogle Scholar
- 80.EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis, Andersen PM, Abrahams S, Borasio GD, de Carvalho M, Chio A, Van Damme P, Hardiman O, Kollewe K, Morrison KE, Petri S, Pradat PF, Silani V, Tomik B, Wasner M, Weber M (2012) EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)–revised report of an EFNS task force. Eur J Neurol 19:360–375Google Scholar
- 83.Ait-El-Mkadem S, Chaussenot A, Bannwarth S, Rouzier C, Paquis-Flucklinger V, CHCHD10-Related Disorders (2015) In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K (eds) GeneReviews® [Internet]. University of Washington, Seattle, 1993–2016. http://www.ncbi.nlm.nih.gov/books/NBK304142/. Accessed Sept 2016