Diagnosis Of Motor Neuron Disease Research Articles

Association Between Early-Life and Premorbid Measurements of Body Composition and Risk of Motor Neuron Disease: A Prospective Cohort Study in the UK Biobank.

The objective of this study was to investigate the association between developmental and premorbid body composition measurements and the risk of motor neuron disease (MND). We performed a cohort study in the UK Biobank to assess the association of developmental body metrics and premorbid body composition measures (using 28 measurements and 7 patterns of body composition) with the risk of MND. Among participants with longitudinal measures, we compared the changes in body composition over time between individuals who later developed MND and those who remained free of MND. Among the 412,691 individuals included in this study, 549 people received an MND diagnosis during the follow-up visit. Higher birth weight was associated with an increased risk of MND among individuals born over 4 kg (hazard ratio [HR] per kg increase = 2.21, 95% confidence interval [CI] = 1.38-3.55), and taller adult height was associated with an increased risk of MND (HR per 5 cm increase = 1.10, 95% CI = 1.03-1.17). We observed that measures of elevated fat mass were associated with a lower risk of MND more than 5 years before diagnosis. A higher "leg-dominant fat distribution" pattern was associated with an increased risk whereas higher "muscle strength" was associated with a reduced risk of MND 5 years before diagnosis. Longitudinal analyses indicated a faster decline in measures of fat mass and muscle strength, as well as a shift in fat distribution from arm to leg dominant, among individuals who later developed MND, compared with others. Body composition at early and middle age may be indicative of the risk of MND development. ANN NEUROL 2024.

Specialist referrals and diagnostic delays in motor neurone disease: Mapping patients’ journey through hoops and hurdles in healthcare

Motor neuron disease (MND) is an uncommon but invariably fatal condition, with a median survival of 24–48 months from symptom onset. Although there is no cure at the moment, early diagnosis is crucial to enable timely access to multidisciplinary care, and enrolment in clinical trials utilising investigational therapies. Unfortunately, diagnostic delays remain common, and the average delay between symptom onset and diagnosis is 12 months. Large numbers of specialist referrals have been suggested as a key contributor to diagnostic delays.We conducted a retrospective review of the medical records of patients diagnosed with MND in Lancashire and South Cumbria, to investigate whether large numbers of specialty referrals are a common occurrence in MND.Our review identified that 35% of patients with MND were seen by two or more specialties before being referred to neurology. This rose to 49% when patients with bulbar onset disease were considered. 9% of cases saw three or more specialists. There was a statistically significant correlation between the number of specialist referrals and delays in neurology referral. We hope our findings will increase awareness of the importance of early neurology referral in the diagnosis of MND and promote the use of the MND Red Flag tool as a means of identifying patients in need of prompt neurological evaluation.

Diagnostic value of neurofilaments in differentiating motor neuron disease from multifocal motor neuropathy

ObjectiveTo evaluate the performance of serum neurofilament light chain (NfL) and cerebrospinal fluid (CSF) phosphorylated neurofilament heavy chain (pNfH) as diagnostic biomarkers for the differentiation between motor neuron disease (MND) and multifocal motor neuropathy (MMN).MethodsThis retrospective, monocentric study included 16 patients with MMN and 34 incident patients with MND. A subgroup of lower motor neuron (MN) dominant MND patients (n = 24) was analyzed separately. Serum NfL was measured using Ella automated immunoassay, and CSF pNfH was measured using enzyme-linked immunosorbent assay. Area under the curve (AUC), optimal cutoff values (Youden’s index), and correlations with demographic characteristics were calculated.ResultsNeurofilament concentrations were significantly higher in MND compared to MMN (p < 0.001), and serum NfL and CSF pNfH correlated strongly with each other (Spearman’s rho 0.68, p < 0.001). Serum NfL (AUC 0.946, sensitivity and specificity 94%) and CSF pNfH (AUC 0.937, sensitivity 90.0%, specificity 100%) performed excellent in differentiating MND from MMN. Optimal cutoff values were ≥ 44.15 pg/mL (serum NfL) and ≥ 715.5 pg/mL (CSF pNfH), respectively. Similar results were found when restricting the MND cohort to lower MN dominant patients. Only one MMN patient had serum NfL above the cutoff. Two MND patients presented with neurofilament concentrations below the cutoffs, both featuring a slowly progressive disease.ConclusionNeurofilaments are valuable supportive biomarkers for the differentiation between MND and MMN. Serum NfL and CSF pNfH perform similarly well and elevated neurofilaments in case of diagnostic uncertainty underpin MND diagnosis.

Clinical prognostic factors predicting survival of motor neuron disease patients with gastrostomy: A retrospective analysis.

Enteral feeding via gastrostomy is a key intervention to prevent significant weight loss in Motor Neuron Disease (MND). The aim of this study was to explore demographic, clinical, and nutritional factors associated with survival time in MND patients with gastrostomy. The retrospective study analyzed 94 MND patients (n = 58 bulbar-onset and n = 36 limb-onset) who underwent gastrostomy between 2015 and 2021. The primary outcome was the survival time from gastrostomy insertion to death. Independent variables of interest explored were: age at gastrostomy insertion, disease onset type, known genetic cause, use of riluzole, non-invasive ventilation (NIV) use, forced vital capacity prior to gastrostomy, weight loss from diagnosis to gastrostomy insertion, and body mass index (BMI) at the time of gastrostomy insertion. The median survival time from gastrostomy to death was 357 days (± 29.3, 95%CI: 299.5, 414.5). Kaplan-Meier method and log-rank test revealed patients with lower body mass index <18.5 kg/m2 at the time of gastrostomy insertion (p = .023) had shorter survival. Cox proportional hazards model with multivariable adjustment revealed that older age (p = .008), and greater weight loss from diagnosis to gastrostomy (p = .003) were associated with shorter survival time post gastrostomy. Limb onset (p = .023), NIV use not being required (p = .008) and daily NIV use when required and tolerated (p = .033) were associated with longer survival. Preventing or minimizing weight loss from MND diagnosis and encouraging NIV use when clinically indicated are modifiable factors that may prolong the survival of MND patients with gastrostomy.

Could tractography help in the diagnosis of motor neuron diseases\amyotrophic lateral sclerosis? A case report

Introduction: Amyotrophic lateral sclerosis (ALS) is a disease that affects motor neurons, progressively degenerating them. This degeneration process has a complex and multifactorial etiology, culminating in the motor disability of the carriers. Case Report: The case report discusses a clinical suspicion of motor neuron disease (ALS) in the patient NVF, male, 72 years old, with a report of falls and paresis in the left distal crural third for two years. His condition evolved with the four limbs and trunk involvement, but it does not show bulbar involvement. In addition, atrophy, fasciculations, and paresis have been identified from lower motor neuron injury in all four limbs. Regarding the pyramidal pathway, only lively but symmetrical reflexes. Conclusion: In the last two decades, there have been significant advances in non-invasive imaging techniques, which allow the evaluation of brain structure, as is the case with tractography. Although this technique does not diagnose ALS, it can help early detection.

O029 Clinical features and outcomes of patients referred to a Respiratory Failure service

Abstract Non-invasive ventilation (NIV) improves quality of life and mortality in patients with hypercapnic respiratory failure. We reviewed the last decade of long-term home NIV provision in a single centre via an observational retrospective study. Data were prospectively collected in a database. Anthropometric and demographic data were expressed as mean±SD. Indications for chronic home NIV were categorised into: neuromuscular diseases (NMD) [including motor neuron disease (MND)]; obstructive sleep apnoea/obesity hypoventilation (OSA/OHS); pulmonary disease; and others. Linear regression analysis was performed for the annual incidence by indication, and multivariate Cox regression performed compares MND mortality with other causes. 541 new patients (Age 60.8 ±17.1 years; 273 Female; BMI 33.4±13.9 kg/m2 (n=380)) were commenced on NIV between 2012-2022. Patient numbers increased by 2.3 (0.4-4.1) per year (slope, (95% confidence intervals); p&amp;lt;0.02). Indications for treatment included: 52% NMD (29% MND); 19% OSA/OHS; 19% pulmonary disease; and 10 % other causes. Average referral age, BMI and gender composition were stable over the time period. There was an increase in patients with pulmonary disease commenced on NIV of 0.6 (0.7-3.5)% per year (p&amp;lt;0.008), other indications for treatment were unchanged. 31.4% patients died (16.8% MND). Multivariate Cox regression analysis showed that a diagnosis of MND was associated with an increased likelihood of death (HR 11.42, p&amp;lt;0.0001). In the last decade, there’s been a gradual increase in patient numbers treated with chronic home NIV, with an increasing percentage of patients with pulmonary disease commenced on treatment. Mortality in MND patients on NIV is higher compared with other indications.

When months matter; modelling the impact of the COVID-19 pandemic on the diagnostic pathway of Motor Neurone Disease (MND).

A diagnosis of MND takes an average 10-16 months from symptom onset. Early diagnosis is important to access supportive measures to maximise quality of life. The COVID-19 pandemic has caused significant delays in NHS pathways; the majority of GP appointments now occur online with subsequent delays in secondary care assessment. Given the rapid progression of MND, patients may be disproportionately affected resulting in late stage new presentations. We used Monte Carlo simulation to model the pre-COVID-19 diagnostic pathway and then introduced plausible COVID-19 delays. The diagnostic pathway was modelled using gamma distributions of time taken: 1) from symptom onset to GP presentation, 2) for specialist referral, and 3) for diagnosis reached after neurology appointment. We incorporated branches to simulate delays: when patients did not attend their GP and when the GP consultation did not result in referral. An emergency presentation was triggered when diagnostic pathway time was within 30 days of projected median survival. Total time-to-diagnosis was calculated over 100,000 iterations. The pre-COVID-19 model was estimated using published data and the Improving MND Care Survey 2019. We estimated COVID-19 delays using published statistics. The pre-COVID model reproduced known features of the MND diagnostic pathway, with a median time to diagnosis of 399 days and predicting 5.2% of MND patients present as undiagnosed emergencies. COVID-19 resulted in diagnostic delays from 558 days when only primary care was 25% delayed, to 915 days when both primary and secondary care were 75%. The model predicted an increase in emergency presentations ranging from 15.4%-44.5%. The model suggests the COVID-19 pandemic will result in later-stage diagnoses and more emergency presentations of undiagnosed MND. Late-stage presentations may require rapid escalation to multidisciplinary care. Proactive recognition of acute and late-stage disease with altered service provision will optimise care for people with MND.

Identifying key signs of motor neurone disease in primary care: a nested case–control study using the QResearch database

ObjectiveTo confirm the symptoms and signs for motor neuron disease (MND) in the Red Flag tool; to quantify the extent to which the key symptoms and signs are associated with...

P.046 Extensive leukoencephalopathy as a differential diagnosis of motor neuron disease: case report and literature review

Background: Weakness is frequently a reason to attend neurology consultation which entails a challenge due to its wide range of diagnostic possibilities. We present the case of an elderly woman with long-standing right upper limb weakness. Methods: Patient data was obtained from medical records and an extensive neuropathological evaluation was performed. Results: Weakness started off in her right hand, which progressed insidiously to her right hemibody. with hyperreflexia, atrophy, fasciculations and foot drop. Subsequently, bulbar and left hemibody deterioration began. She died due to ventilatory failure four years after the first symptom appeared. A tigroid pattern in the neuroimaging studies suggest white matter involvement, while the neuropathological studies showed loss of motor neurons in the spinal cord. Conclusions: The available evidence does not allow us to dismiss the hypothesis of a motor neuron disease or a leukodystrophy. Cases like this one establish a diagnostic challenge due to their complexity and unusual etiology.

Analysis of incidence of motor neuron disease in England 1998–2019: use of three linked datasets

Objective: This study uses three linked datasets to provide an estimate of incidence of motor neuron disease (MND) in England from 1998 to 2019. Comparison is made to previous British studies. It examines age at diagnosis and ethnicity of those affected. Methods: The literature was searched for studies of MND incidence in Great Britain from 1995 to date. The QResearch and linked Hospital Episode Statistics and Death register databases were searched from 1998 to 2019 for cases of MND, and incidence calculated from 16.8 million adults and 112 million adult years of data. Results: We found 6437 adults with a diagnosis of MND giving an incidence of MND of 5.69/100,000 person years (95% CI 5.51–5.88); 6.57 (6.41–6.99) in men and 4.72 (4.49–4.97) in women when age-standardized to the 2011 UK population. The median age of diagnosis was 72 years. Peak incidence occurred in the 80–84 year age group in men and 75–79 in women. Age-standardized incidence was as high in Bangladeshi, Black Caribbean, Indian, other Asian and Pakistani people as in White people. Black African and Chinese people had a lower incidence. Conclusion: The use of three linked national datasets captured 33% more people than a primary care dataset alone. Patients were older than in previous studies and rates were high in all ethnic groups studied except Black African and Chinese people. We present the highest incidence of MND reported globally in the past 50 years. Methodological differences may in part explain differences with previous reports. The use of national datasets may have captured additional MND patients with serious comorbidities who have not seen a neurologist before death. A limitation of this approach is that unlike population registers, which minimize false positive diagnosis by neurologist review of each patient, we cannot review diagnosis for individuals as data are anonymized.

Why Electrophysiological Reassessment is Needed? the Experience of Our Laboratory – a Cross-Sectional Study

Introduction: Requesting repetition of an electrodiagnostic examination (EDX) for follow-up and/or diagnostic verification is common in the daily practice of a reference center. Objective: This study aimed to evaluate demographical and electrophysiological characteristics of the patients who were referred to a reference electrophysiology laboratory for reassessment, to explore the underlying reasons, and motives for ordering a reassessment. Methods: Patients who had at least one EDX study within the last year in one of the two different time periods (winter and summer) were included in the study. Their demographical features, preliminary diagnosis, and electrophysiological findings were assessed and compared with their previous EDX interpretations. Results: Thirty-five (14 female, 21 male) patients (7,7%) out of 457 patients from the winter period (November 11, 2018[FIGURE DASH]December 12, 2018) and 38 (20 female, 18 male) patients (7,8%) out of 487 patients from the summer period (July 01, 2019[FIGURE DASH]August 08, 2019) were included in the study. Age, gender, preliminary diagnosis, and the number of previous electrophysiologic tests were statistically similar between the two groups. The most common reason for reassessment was to verify or to follow-up on a diagnosis of motor neuron disease or polyneuropathy. Compared to the summer group, the patients who had previous EDX in a different center were more common in the winter group, mean duration between EDX studies was also shorter. Conclusion: In this study, we have inspected the patients referred to our laboratory within two different time frames in a year for a repeat EDX study. It was observed that the number of patients who underwent a repeat EDX was relatively low, and there was no significant difference not only in the preliminary diagnosis but also in the electrophysiological findings.

WS3.3. The Values of H-Reflex and Other Late Responses in Disease

It is relatively easy to record the H reflex from soleus, and many authorities still teach that it can be obtained only from this muscle. Inability to record the soleus H reflex has three possible causes: (i) poor technique; (ii) low central excitability; (iii) loss of afferent fibres due to, e.g., peripheral neuropathy or nerve root pathology. If the reason is (ii), all reflexes, in upper and lower limbs, will be difficult to elicit, and the reflex response should then become apparent during a steady voluntary contraction. A voluntary contraction not only potentiates the reflex but it also decreases the stimulus intensity needed for the reflex, ensures that the reflex involves the contracting muscle, and greatly reduces the attenuation of the response that occurs with higher stimulus rates. It reduces the latency of the reflex responses only slightly (<0.5 ms). During a steady voluntary contraction of the test muscle, H reflexes can be recorded for most limb muscles, and provide information about conduction across the most relevant spinal segments (e.g., C5/6, C6, C6/7, C8/T1, L3/4, L4/5 and S1). In routine diagnostic practice, I assess reflex conduction in perhaps 60% of patients because this provides insight into conduction in afferent and efferent axons over the entire peripheral nerve pathway. In diagnostic practice we focus on pathology that causes loss of reflex function. However, if you can record H reflexes at rest from muscles that normally have no H reflex unless they are contracting voluntarily, there is presumptive evidence of hyperreflexia. If there is EMG evidence of denervation in that muscle, this suggests UMN and LMN changes for a single muscle, and this is support for a diagnosis of motor neurone disease. F waves can provide complementary information about motor axons because the H reflex preferentially involves slowly conduction motor axons from small low-threshold motoneurones, but the F wave measures conduction in larger axons that are not discharged reflexly by the intense afferent volley produced by the supramaximal stimulus.

Acquired Chiari Type 1 Malformation Secondary to Paget’s Disease of the Bone: A Case Report

Chiari type 1 malformations are characterised by caudal descent of cerebellar tonsil into foramen magnum. Usually it is congenital. Paget’s disease causing acquired chiari type 1 malformation is rare with only five reported cases in the literature. The diagnosis is primarily by Magnetic Resonance Imaging (MRI). Authors reported a case of acquired chiari type 1 malformation due to paget’s disease in a 58-year-old male patient diagnosed by MRI and Computed Tomography (CT). The patient presented with complaints of headache, unsteady gait, slow movements with weakness in all the four limbs, difficulty in walking which aggravated since three days and stammering of speech. Initially a diagnosis of motor neuron disease was suspected and the patient was subjected for MRI examination of brain and spine. MRI revealed platybasia with cerebellar tonsillar herniation with calvarial thickening and multiple vertebral collapse. The CT of brain and spine was done to evaluate bones specifically in view of thickened cranial vault and multiple vertebral collapse on MRI which revealed features of paget’s disease in the form of widened sclerotic bone with lytic areas and thickened trabeculae. Hence, diagnosis of paget’s disease causing acquired chiari type 1 malformation was made which correlated with biochemical findings. The management is different in primary and acquired chiari type 1 malformation and hence it is important to diagnose this condition which is relatively rare.

Vulpian-Bernhardt syndrome. Its frequency and clinical and electrophysiological features in a tertiary care centre in Mexico

Vulpian-Bernhardt syndrome (VBS) is an atypical rare clinical phenotype of amyotrophic lateral sclerosis (ALS) that causes a significant delay in diagnosis, and thus it is important to recognise its clinical and electrophysiological features. Retrospective cross-sectional study. We reviewed the clinical records of patients diagnosed with ALS in the period from January to December 2019. Those meeting criteria for VBS were included so as to describe their frequency as well as their clinical and electrophysiological features. Twenty patients (15.8%) met criteria for VBS; 55% were female; age at onset of symptoms was 46.6 ± 12.9 years; 40% were smokers; median delay in diagnosis was 24 (12-96) months; median time to involvement of the second body segment was 24 (12-132) months, which was lumbosacral in 65%; mean Revised Amyotrophic Lateral Sclerosis Functional Rating Scale score was 27 ± 7 points; 45% met the El Escorial criteria for ALS defined at diagnosis and 58.8% met the Awaji criteria. There were 19 nerve conduction studies and 17 electromyograms, and an abductor digiti minimi-abductor pollicis brevis (ADM/APB) ratio < 0.6 was found in 63% (split hand). There is a significant delay in the diagnosis of motor neuron diseases in general and more particularly in VBS. Calculating the ADM/APB ratio and applying the Awaji criteria in the electrophysiology study can be a valuable aid to increase diagnostic certainty in this clinical entity.

Challenges in diagnosis of motor neuron disease: A case series of ALS mimic syndromes.

Amyotrophic lateral sclerosis (ALS) is most often a sporadic disorder that affects both upper and lower motor neurons. Because the prognosis of ALS is uniformly poor compared to other motor neuron disorders, defining the diagnosis can help guide appropriate clinical management and improve quality of life for patients. However, the diagnosis of ALS is often challenging and there may be overlapping clinical features with other rare diseases. We present four patients who were referred to our center because of the clinical suspicion of ALS, in whom more detailed assessments revealed an alternative diagnosis, and we discuss the limitations of the modified-El Escorial criteria.

Does a lack of social support and perceived stigma influence the relationship between motor neurone disease-related stress and psychological distress?

This study aimed to investigate the mechanisms through which social support and felt stigma influence the relationship between motor neurone disease (MND)-related stress and psychological distress for people with MND. Although a lack of social support has been identified as a significant predictor of psychological distress for individuals with MND, the mechanisms through which this relationship exists have not been assessed, nor have the predictive nature of stigma. Furthermore, the theoretical model specifying the effects of enacted stigma on self-stigma has not been tested in individuals with MND. A cross-sectional design utilizing an online survey method was used. It was hypothesized that social support would moderate the relationship between MND-related stress (operationalized as enacted stigma or physical functioning) and psychological distress (operationalized as depression, anxiety, and stress). Furthermore, felt stigma would significantly mediate the relationship between MND-related stress (enacted stigma) and psychological distress. Individuals with a diagnosis of MND were recruited internationally through social media and through various organizations and support services. Seventy-seven participants completed the online survey. Significant correlations were identified between social support, felt, and enacted stigma and psychological distress. Moderation analysis was not significant. However, the mediation analyses identified felt stigma as a significant mediator of the relationship between enacted stigma and psychological distress. A direct relationship between enacted stigma and stress (but not depression and anxiety) was also evident. A comprehensive approach to tackling stigma is important in ameliorating psychological distress for people with MND. Limitations of the current study are discussed, along with implications for clinical practice.

Circulating MicroRNAs as Diagnostic Biomarkers for Motor Neuron Disease.

Motor neuron disease (MND) is a kind of neurodegenerative disease that selectively invades spinal cord anterior horn cells, brainstem motor neurons, cortical pyramidal cells and the pyramidal tract. The main clinical features are the symptoms and signs of impaired upper and lower motor neurons, manifested as muscle weakness, atrophy and pyramidal tract signs. Histopathology has shown the disappearance of pyramidal cells in the motor cortex, loss of motor neurons in the anterior horn of the spinal cord and brainstem, and degeneration of the corticospinal tract. Due to the lack of effective treatment methods, the prognosis is generally poor, so it is of great significance to confirm the diagnosis early by various means. However, the current diagnosis of MND mainly relies on the combination of clinical manifestations and neurophysiological examinations, lacking effective means of early diagnosis. Circulating microRNA (CmiRNA) is a kind of stable miRNA molecule in serum, plasma and other body fluids, which has the characteristics of distinct differential expression, sensitive detection and convenient sample collection. As a possible new biomarker of MND, CmiRNA can not only reveal the pathophysiological process of MND, but also monitor disease progression and response to drug therapy. With the development of miRNA detection technology, more and more CmiRNAs as biomarkers with potential diagnostic value have been investigated. In this review, we explored the possibility of circulating samples as different sources of biomarkers for the diagnosis of MND, analyzing the progress of CmiRNA detection techniques, and presenting potential diagnostic MND biomarkers that have been reported.

Subacute combined degeneration of the spinal cord masking motor neuron disease: a case report

BackgroundSubacute combined degeneration of the spinal cord is a potentially reversible myelopathy typically associated with vitamin B12 deficiency. There is predominant involvement of spinal cord posterior and lateral tracts, and manifestations include peripheral paraesthesia, impaired proprioception, gait disturbance, neuropathy and cognitive changes. Motor neuron disease (MND) is an unremittingly progressive neurodegenerative disorder involving upper and lower motor neurons with an average prognosis of 2–3 years. The diagnosis is clinical and may be supported by electromyography. A subset of MND occurs concurrently with frontotemporal dementia (FTD-MND) and may be initially misdiagnosed as a primary psychotic disorder.Case presentationWe describe a 57-year-old Caucasian woman who presented with confusion and dysarthria. Low vitamin B12 levels and MRI findings led to an initial diagnosis of subacute combined degeneration of the spinal cord. Despite treatment, persistent dysarthria and presence of both upper and lower motor neuron signs on clinical examination prompted further assessment. Electromyography supported the diagnosis of MND. Comorbid chronic paranoid schizophrenia complicated the diagnostic process. We discuss overlapping features between B12 deficiency and MND as well as the neuropsychiatric overlap of B12 deficiency, FTD-MND and chronic schizophrenia.ConclusionsFirstly, variability in neurocognitive and imaging manifestations of B12 deficiency can limit delineation of other pathologies. Failure to improve following correction of nutritional deficiencies warrants further investigation for an alternate diagnosis. Secondly, re-evaluation of patients with comorbid mental health conditions is important in reaching timely and accurate diagnoses.

Factors contributing to delays in the diagnosis of motor neuron disease – A South Australian study

Objective(s)To characterize the clinical factors that influence time to diagnosis of motor neuron disease (MND) in a cohort of patients living in South Australia. DesignA retrospective study. SettingSingle centre study of patients managed at a tertiary referral hospital. ParticipantsPatients with MND living in South Australia enrolled in the Australian MND Registry between January 2016 and January 2018. One participant was excluded as study variables of interest were missing. ResultsThe mean time to diagnosis was 13 ± 1 months (median 11 months; range 1–38 months) from symptom onset. 41% of patients were classified as having fast disease progression; mean age of disease onset of those with fast disease progression was significantly later in life compared to those with slow disease progression (68 ± 10 years vs 64 ± 8 years) (P < .05, t = −3.921, df = 220). Patients with fast disease progression were diagnosed significantly earlier than those with slow disease progression (8 ± 1 months vs 16 ± 2 months) (P < .0001, t = 34.6, df = 220), were less likely to undergo multiple specialist opinions prior to referral to a neurologist (53% vs 73%) (P < .05, Chi-squared = 9.5, df = 1), and were significantly more disabled at time of diagnosis (mean ALSFRS-R 33 ± 5) than those with slow disease progression (mean ALSFRS-R 41 ± 5) (P < .0001, t = 12.4, df = 220). Conclusion(s)Fast disease progression identifies a dichotomy of MND patients that are diagnosed earlier, probable because they are more disabled at diagnosis, likely mediated by a more efficient referral process. A greater awareness of the disease and increased accessibility to neurologists is required to shorten time to diagnosis.

A case report of an overlap between motor neuron disease and Parkinson disease

A case report of an overlap between motor neuron disease and Parkinson disease. H. M is a 72 years old Sudanese male. During the last two years he used to complain of upper and lower limbs weakness. This was not preceded by neck pain, sphincteric disturbance or numbness of extremities. During the course of the disease his elderly son noticed that he had slurred speech and difficulty in swallowing. He has no family history of similar condition and his past medical history was insignificant. He looks unwell. The abnormalities were confined to the central nervous system. He is fully conscious, although he was a little bit emotionally labile. He had obvious tongue fasciculation. Both upper limbs showed distal muscle wasting and remarkable fasciculation. The tone was hypertonic in both upper limbs while the power was grade two. The reflexes were exaggerated. All modalities of sensations were intact. Coordination couldn't be demonstrated due to the pronounced weakness of the distal parts of both limbs. Both lower limbs showed wasting, fasciculation, hypertonia and hyperreflexia and the power was grade two. All modalities of sensations were intact. Both coordination and the gate cannot be demonstrated due to the weakness. A clinical diagnosis of motor neuron disease was made and this was supported by EMG findings. During the course of the disease the patient showed features of Parkinson disease on the top of motor neuron disease).