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Diaphragm Ultrasound in Patients with Neuromuscular Disorders
Published in Massimo Zambon, Ultrasound of the Diaphragm and the Respiratory Muscles, 2022
Neuromuscular disorders are a group of neurological diseases that can affect the muscles, the neuromuscular junction, the peripheral nerves, and the motor neurons. Respiratory function can be affected progressively in muscular respiratory. The diaphragm is particularly affected in late onset Pompe disease (LOPD). Clinical symptoms of NMD patients with diaphragm dysfunction can be subtle particularly in patients with peripheral skeletal disabilities. Patients may disclose dyspnea, morning headache, fatigue, nocturnal awakenings, and hypersomnia (1). Abnormal sleep disorders are frequent in NMD patients with diaphragm dysfunction (2). Diurnal hypoventilation may occur later with disease progression. Even if the introduction of non-invasive ventilation has improved survival in muscular dystrophy (3,4), NMD exposes patients to a risk of acute respiratory failure (5). The diaphragm is the main inspiratory muscle that accounts for more than 80% of forced vital capacity in healthy persons. An ultrasound is a non-invasive radiological technique that can be used to assess diaphragm morphology and function in neuromuscular disorders. A diaphragm ultrasound can be performed in outclinic patients but also in patients admitted in hospital because of acute respiratory distress.
Electromyograms
Published in A. Bakiya, K. Kamalanand, R. L. J. De Britto, Mechano-Electric Correlations in the Human Physiological System, 2021
A. Bakiya, K. Kamalanand, R. L. J. De Britto
The electrical signals from the neuromuscular system are recorded using the standard electrodiagnostic technique known as “electromyography,” which is a major diagnostic tool for the confirmation of the neuromuscular disorders (Sadikoglu et al., 2017; Duque et al., 2014; Greenway et al., 2006; Rowland & Shneider, 2001; Blottner & Salanova, 2015; Ambikapathy & Krishnamurthy, 2018; Ambikapathy et al., 2018; Bakiya & Kamalanand, 2018; Bakiya et al., 2020). The EMG signals are acquired either using surface electrodes which are non-invasive electrodes and well acceptable to the patients (Smith & Hargrove, 2013; Greenway et al., 2006; Sadikoglu et al., 2017; Day, 2002) or needle electrodes which are invasive (electrodes inserted into the muscle fiber) (Smith & Hargrove, 2013; Greenway et al., 2006; Rowland & Shneider, 2001).
Depression and Somatization in Chronic Fatigue Syndrome
Published in Peter Manu, The Psychopathology of Functional Somatic Syndromes, 2020
Patients with chronic fatigue syndrome and neuromuscular disorders were similar with respect to age and duration of illness. Patients with major depression were older and had a longer duration of illness than the other two groups. All patients described themselves as markedly fatigued, but the severity of fatigue was rated much higher by the chronic fatigue syndrome and major depression patients. Patients from these two groups felt that their illness was primarily a mental impairment (e.g., problems with concentration, clear thinking, and memory). In contrast, the fatigue symptom of patients with neuromuscular disorders had mainly physical features (e.g., lacking energy, having less muscle strength, and feeling weak).
Is it accurate to classify ALS as a neuromuscular disorder?
Published in Expert Review of Neurotherapeutics, 2020
Michael A. van Es, H. Stephan Goedee, Henk-Jan Westeneng, Tanja C.W. Nijboer, Leonard H. van den Berg
Diseases of the peripheral nervous system are categorized as neuromuscular diseases. There are over 600 distinct neuromuscular disorders, each with a unique set of signs and symptoms, depending on which part of the peripheral nervous system is (predominantly) affected (Figure 1)[4]. Also, the heterogeneity of underlying causes at specific anatomical sites results in variability in the age of onset (ranging from neonatal to late-onset), rate of progression, and disease severity. Nevertheless, most neuromuscular diseases converge to similar downstream effects, ultimately presenting with muscle weakness and atrophy, sensory disturbances, and/or reduced tendon reflexes. Other features that have been listed in subsets of patients with neuromuscular disorders, include marked bulbar signs, involvement of cranial nerves, and respiratory or cardiac dysfunction[4]. A detailed summary of all neuromuscular disorders falls outside the scope of this article.
Multicenter validation of [18F]-FDG PET and support-vector machine discriminant analysis in automatically classifying patients with amyotrophic lateral sclerosis versus controls
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2018
Ludovic D’hulst, Donatienne Van Weehaeghe, Adriano Chiò, Andrea Calvo, Cristina Moglia, Antonio Canosa, Angelina Cistaro, Stefanie Ma Willekens, Joke De Vocht, Philip Van Damme, Marco Pagani, Koen Van Laere
A total of 175 ALS patients (ALS-BE), as previously described (13,14), was divided in two groups (a training set of 70 subjects and a second set of 105 ALS patients for within-center validation). The training set (n = 70; 62.1 ± 12.5 years; 44M/26F) was recruited at the tertiary neuromuscular clinic at the University Hospital Leuven (Belgium) between January 2011 and January 2013, whereas the second set patients (n = 105; 61.7 ± 12.0 years; 74M/31F) was recruited between October 2012 and January 2015. All patients had a negative history of other neurologic disorders, underwent neurological investigation, and were electro physiologically tested by an experienced specialist in neuromuscular disorders. Sixty patients had definite ALS diagnosis, 81 patients probable and 34 patients possible ALS diagnosis, based on both the revised El Escorial and Awaji-Shima criteria. (Table 1). The majority (>90%) of subjects underwent PET imaging within four months after their first visit to clinic (median = 1.2 months, range = 0–17 months). Time from first symptom to PET scan was 15.0 ± 12.3 months.
Pearson syndrome
Published in Expert Review of Hematology, 2018
Piero Farruggia, Floriana Di Marco, Carlo Dufour
Pregnancy and birth are usually normal.Anemia, usually found at the first blood count, is generally transfusion dependent in the early months of life but transfusion independence is highly frequent at under 3 years of age.High levels of adenosine deaminase are found in about 1/2 of the PS patients.Throughout the course of the disease more than 1/2 of patients develop neurological and neuromuscular disorders.The prognosis remains poor.