scholarly journals Life-threatening misdiagnosis of bulbar onset myasthenia gravis as a motor neuron disease: How much can one rely on exaggerated deep tendon reflexes

2015 ◽  
Vol 4 (1) ◽  
pp. 58 ◽  
Author(s):  
Keivan Basiri ◽  
Behnaz Ansari ◽  
AliAsghar Okhovat
Keyword(s):  
Myasthenia Gravis ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Life Threatening ◽  
Bulbar Onset ◽  
Tendon Reflexes

scholarly journals Use of non-invasive ventilation in motor neuron disease – a retrospective cohort analysis

2021 ◽  
Vol 18 ◽  
pp. 147997312110638
Author(s):  
Laura J Walsh ◽  
Kevin F Deasy ◽  
Fernando Gomez ◽  
Elizabeth O’Sullivan ◽  
Joseph Eustace ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Neurodegenerative Disorder ◽  
Cohort Analysis ◽  
Invasive Ventilation ◽  
Non Invasive ◽  
Progressive Muscle Weakness ◽  
Non Invasive Ventilation ◽  
Retrospective Cohort Analysis ◽  
Bulbar Onset

Motor neuron disease (MND) is a neurodegenerative disorder which leads to progressive muscle weakness including respiratory muscle decline. The introduction of non-invasive ventilation (NIV) has been shown to improve quality of life, survival and slow the rate of pulmonary function decline. A retrospective chart analysis of patients who attended the MND clinic from 2014 to 2019 at a tertiary-referral, academic, teaching hospital was carried out to evaluate if NIV and greater compliance with NIV was associated with improved survival. 111 patients were included. The mean age at diagnosis was 63.8 years and 61.3% were males. 66.7% of our cohort used NIV and of this 66.7%, 44.1% were compliant. There was a significantly longer survival in those who used NIV ( p = 0.002) and in those who used NIV optimally ( p = 0.02) when both groups were compared to those who did not use NIV. In the bulbar MND group those who were compliant with NIV survived longer than who those who did not use NIV ( p = 0.001). We found a significantly longer survival with the use of NIV, the use of NIV optimally and with use of NIV in those with bulbar onset MND compared to those who did not use NIV.

Stridor: a rare presentation of motor neuron disease

2021 ◽  
Vol 14 (7) ◽  
pp. e241923
Author(s):  
Brian Gordon ◽  
Eimear Joyce ◽  
Timothy J Counihan
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Vocal Cord ◽  
Poor Response ◽  
Vocal Cord Palsy ◽  
Pharmacological Therapy ◽  
Rare Presentation ◽  
Emergency Tracheostomy ◽  
Life Threatening ◽  
History Of

A 74-year-old farmer presented to the emergency department with a subacute history of progressive dyspnoea, wheeze and dysphonia. He was treated for an exacerbation of asthma with poor response to pharmacological therapy. Investigation of dysphonia via laryngoscopy identified a bilateral vocal cord palsy. Subsequently, the patient developed an episode of life-threatening stridor and hypercapnic respiratory failure requiring an emergency tracheostomy. Neurology input identified evidence of widespread muscle fasciculations on clinical examination. MRI of the brain and cervical spine were unremarkable. Electromyogram testing identified changes of acute denervation in several limbs consistent with a diagnosis of motor neuron disease (MND). Bilateral vocal cord palsy has been rarely reported in the literature as the heralding symptom resulting in the diagnosis of MND. In patients with a subacute onset of dysphonia, dyspnoea and stridor, MND should be a differential diagnosis.

Apolipoprotein E ɛ4 in bulbar-onset motor neuron disease

The Lancet ◽  
1996 ◽  
Vol 348 (9023) ◽  
pp. 334-335 ◽  
Author(s):  
R Glenn Smith ◽  
Lanny J Haverkamp ◽  
Susan Case ◽  
Vicki Appel ◽  
Stanley H Appel
Keyword(s):  
Apolipoprotein E ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Bulbar Onset

021 Clinical implications of cortical dysfunction in motor neuron disease: a combined structural and functional approach

2018 ◽  
Vol 89 (6) ◽  
pp. A9.3-A10
Author(s):  
Thanuja Dharmadasa ◽  
Neil G Simon ◽  
Chenyu Wang ◽  
Steve Vucic ◽  
Matthew C Kiernan
Keyword(s):  
Motor Cortex ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Disease Progression ◽  
Diffusion Tensor ◽  
Statistical Parametric Mapping ◽  
Functional Approach ◽  
Cerebral White Matter ◽  
Bulbar Onset ◽  
Cortical Dysfunction

IntroductionMotor neuron disease (MND) is characterised by progressive failure of upper (UMN) and lower motor neurons (LMN). UMN dysfunction remains difficult to detect clinically, and the influence of cortical change on disease progression and prognosis remains unclarified. This study quantitatively assessed cortical dysfunction in vivo using a novel combined structural and functional approach.MethodsForty-one newly diagnosed MND patients and 30 controls prospectively underwent 3T diffusion tensor magnetic resonance imaging (DTI) to assess cerebral white matter structural integrity. DTI measures including apparent diffusion coefficient (ADC) and functional anisotropy (FA) were analysed using statistical parametric mapping. Threshold tracking transcranial magnetic stimulation (TT-TMS) studies were additionally performed across all four limbs to concurrently assess the functional integrity of the motor cortex. All patients underwent detailed clinical and cognitive assessment.ResultsCortical abnormalities were prominent, with FA significantly reduced (p<0.01) and ADC enhanced (p<0.03) along the primary motor tracts in all MND patients, suggestive of primary axonal degeneration. These changes correlated with clinical function and disease duration. TT-TMS revealed evidence of cortical hyper-excitability over the motor cortex corresponding with clinical site-of-onset (p<0.05). Structural (FA) and functional (cortical hyper-excitability) changes correlated across all extremities. Patients without clinical UMN signs also showed evidence of UMN dysfunction, identifying subclinical change. Subgroup analysis identified the greatest changes in bulbar-onset patients (p<0.03).ConclusionThis multimodal technique identified UMN dysfunction in patients prior to clinically detectable change, which may contribute to earlier diagnosis. More significant cortical involvement in bulbar-onset patients aligns with their poorer survival, highlighting the cortically driven determination of clinical progression and prognosis. Further clinical translation of such patterns may therefore lend insight into pathophysiological disease mechanisms and may influence stratification for clinical trials. Overall, this can serve as a robust biomarker for earlier diagnosis, disease progression and prognosis.

Nerve and muscle

2021 ◽  
pp. 225-280
Keyword(s):  
Spinal Cord ◽  
Nervous System ◽  
Smooth Muscle ◽  
Myasthenia Gravis ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Neuromuscular Diseases ◽  
Autonomic Nervous ◽  
Spinal Cord Damage ◽  
Different Types

‘Nerve and muscle’ begins by describing the different types of cells found in the nervous system. It overviews both the somatic and autonomic nervous systems, how nerves function to initiate and propagate signals, and how anaesthetics work. Mechanisms of transmission are considered at different types of synapse, including neuromuscular and interneuronal synapses, and the use and effects of drugs on the process are discussed. The physiology of skeletal, cardiac, and smooth muscle are compared and contrasted, and the pathology of neuromuscular diseases such as demyelination, myasthenia gravis, motor neuron disease, and spinal cord damage discussed.

Association of apolipoprotein E &isin;4 allele with bulbar-onset motor neuron disease

The Lancet ◽  
1996 ◽  
Vol 347 (8995) ◽  
pp. 159-160 ◽  
Author(s):  
A Al-Chalabi ◽  
M.C Bakker ◽  
C.E Shaw ◽  
C.M Lloyd ◽  
Z.E Enayat ◽  
...  
Keyword(s):  
Apolipoprotein E ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Bulbar Onset

Lack of association of apolipoprotein E ϵ4 allele with bulbar-onset motor neuron disease

1997 ◽  
Vol 41 (3) ◽  
pp. 417-417 ◽  
Author(s):  
Rainer Bachus ◽  
Sebastian Bader ◽  
Reinhard Geßner ◽  
Albert C. Ludolph
Keyword(s):  
Apolipoprotein E ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Bulbar Onset

scholarly journals Use of Non-invasive Ventilation in Motor Neuron Disease – A Retrospective Cohort Analysis

2021 ◽  
Author(s):  
Laura J Walsh ◽  
Kevin F Deasy ◽  
Fernando Gomez ◽  
Elizabeth O’Sullivan ◽  
Joseph Eustace ◽  
...  
Keyword(s):  
Pulmonary Function ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Neurodegenerative Disorder ◽  
Pulmonary Function Tests ◽  
Cohort Analysis ◽  
Invasive Ventilation ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
Bulbar Onset

Abstract Background Motor neuron disease (MND) is a neurodegenerative disorder which leads to progressive muscle weakness including respiratory muscle function decline. The introduction of non-invasive ventilation (NIV) has been shown to improve quality of life, survival and slow the rate of pulmonary function decline. Better compliance with the machine (using it for greater than 4 hours per day) has been shown to have the greatest long-term benefit. Methods A retrospective chart analysis of patients who attended the MND clinic from 2014-2019 at a tertiary-referral, academic, teaching hospital was carried out to evaluate if NIV and greater compliance with NIV was associated with improved survival. Information regarding NIV use, compliance, pulmonary function tests (PFTs) and basic patient demographics was collected. In total 111 patients were included in the study. Results The mean age at diagnosis was 63.8 years and 61.3% were males. 66.7% of our patient cohort used NIV and of this 44.1% were compliant. There was a statistically significant longer survival in those who used NIV (P=0.002) and in those who used NIV optimally (P=0.02) when both groups were compared to those who did not use NIV. In the bulbar MND group those who were compliant with NIV survived longer than who those who did not use NIV (P=0.001). Patients with bulbar onset MND had worse SNIP and peak cough flow values at diagnosis.Conclusion We found a significantly longer survival with the use of NIV, the use of NIV optimally and with use of NIV in those with bulbar onset MND compared to those who did not use NIV.

scholarly journals The Prevalence and Management of Saliva Problems in Motor Neuron Disease: A 4-Year Analysis of the Scottish Motor Neuron Disease Register

2021 ◽  
pp. 1-6
Author(s):  
Iona Pearson ◽  
Stella A. Glasmacher ◽  
Judith Newton ◽  
Emily Beswick ◽  
Arpan R. Mehta ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Health Care Professionals ◽  
Management Practice ◽  
Treatment Decision ◽  
Future Research ◽  
Clinical Factors ◽  
Pharmacological Management ◽  
Research Attention ◽  
Bulbar Onset

<b><i>Introduction:</i></b> Saliva problems are common and distressing for people with motor neuron disease (pwMND). Despite clinical guidelines for assessment and treatment, management of saliva problems has received little research attention. <b><i>Objective:</i></b> We aimed to investigate the prevalence of saliva problems in pwMND, their association with clinical factors, and their management practice using a highly curated population-based register for motor neuron disease (MND) with 99% case ascertainment. <b><i>Methods:</i></b> We conducted an analysis of pwMND diagnosed between January 2015 and October 2019 using the Scottish MND Register (CARE-MND [Clinical, Audit, Research, and Evaluation of MND]). The association between clinical factors and saliva problems was investigated using univariate and multivariable logistic regression; results are reported as odds ratio (OR) and 95% confidence intervals. A survey of health-care professionals involved in the care of pwMND was performed to contextualize the findings. <b><i>Results:</i></b> 939 pwMND were included. Prevalence of saliva problems was 31.3% (294). Bulbar onset (OR 9.46 [4.7, 19.2]; <i>p</i> &#x3c; 0.001) but not age, sex, time to diagnosis, or MND subtype were independently associated with the presence of saliva problems in multivariable regression, and 52.7% (155) of those with saliva problems received pharmacological management. The most commonly used medications were hyoscine, amitriptyline, carbocisteine, glycopyrrolate, and atropine. Evidence base (8, 72.7%) and local guidelines (10, 90.9%) were cited as the most important factors influencing treatment decision by survey respondents (<i>n</i> = 11). <b><i>Conclusion:</i></b> Saliva problems are common and associated with bulbar onset MND. A substantial proportion of pwMND with saliva problems did not receive recommended treatments. Future research is required to determine the relative efficacy of individual pharmacological treatments.

Sign in / Sign up

Export Citation Format

Share Document