Degenerative Diseases of the Nervous System
Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw in Hankey's Clinical Neurology, 2020
Can experience behavior and language symptoms associated with the other FTD syndromes. Motor symptoms arise from motor neuron dysfunction similar to those seen in ALS and may include: Muscle weakness affecting the arms, legs, face, tongue, or neck.Clumsiness, tripping, or falling due to weak or stiff legs.Shortness of breath.Muscle atrophy, fasciculations, muscle cramps.Dysphagia.Dysarthria.Spasticity.Hyperreflexia.Pseudobulbar affect (uncontrollable outbursts of laughing or crying).
Genetic and genomic investigations
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
Before it is concluded, though, that diagnostic genetic testing can be handled just as any other medical test, several important points need to be considered. First (but often omitted) is the need to inform the patient that a genetic disorder is under consideration, and that an abnormal result may have a major impact on the wider family. This is especially relevant for those disorders with a small genetic subset (e.g. motor neurone disease, the prion dementias), where the individual and family concerned may have no appreciation that the disorder could be inherited. Second, it is essential that any symptoms are related to the disorder being tested for; this is especially so if a family history has been recognised. Thus, to take the example of Huntington’s disease given in Chapter 15, genetic testing for an individual whose complaint is headache (unrelated to the disorder) would really be presymptomatic (predictive), not diagnostic, and should be handled accordingly.
Palliative care in people with young onset dementia
Marjolein de Vugt, Janet Carter in Understanding Young Onset Dementia, 2021
Since dementia is a life-limiting disorder, particularly, people with YOD face a significant shortening of their life expectancy. In 2012 a systematic literature review on survival time and years of life lost in people with dementia was published (Brodaty et al., 2012). Ten studies reported survival data for 2,629 patients with YOD. These included younger onset Alzheimer Dementia (AD), Vascular Dementia (VaD), Frontotemporal Dementia (FTD), and other dementias. The median survival time from diagnosis of people with YOD varied between 1.3 in people with FTD with motor neuron disease to 7.9 years in people with YOD in general (Brodaty et al., 2012). The relative loss of remaining life expectancy was greater in YOD as compared to LOD patients. YOD patients lost 60–94% of their life expectancy on average, while LOD patients lost between 16 and 73% of their remaining life span (Brodaty et al., 2012). Another study found that compared to people without dementia of the same age, patients with YOD had a strongly increased mortality risk (Koedam et al., 2008). Atkins et al. found in their study that Young Onset Frontotemporal Dementia (YO-FTD) had poorer survival than YO-AD patients, which might be related to the development of one or more cerebrovascular risk factors in FTD patients (Atkins et al., 2012).
Motor Neuron Disease Register for England, Wales and Northern Ireland—an analysis of incidence in England
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021
Sarah Opie-Martin, Lynn Ossher, Andrea Bredin, Anna Kulka, Neil Pearce, Kevin Talbot, Ammar Al-Chalabi
Motor neuron disease, also known as amyotrophic lateral sclerosis (ALS), is an adult-onset neurodegenerative disease affecting upper and lower motor neurons. Estimated global incidence of ALS is 1–2/100,000 person years, due to geographical variation the range of estimated incidence by subcontinent is 1–3/100,000 person years (1–3). ALS causes progressive weakness and paralysis, with death from respiratory failure usually between 2 and 3 years after diagnosis, but clinical presentation and disease progression are highly variable (4). There is currently no cure for ALS, although riluzole and more recently in some countries, edaravone are approved drugs that modestly extend survival for some people (5,6). Since the initial discovery that mutations in the SOD1 gene can cause ALS, there has been considerable progress in the identification of genetic risk factors (7). Despite these advances, disease etiology in the majority of cases is not understood. Heritability estimates are compatible with the possibility that non-genetic factors such as stochastic biological events in aging, environmental exposures or lifestyle choices contribute to disease risk, but there is no consensus on what these factors are (8).
Clinical features and diagnostic tools in idiopathic inflammatory myopathies
Published in Critical Reviews in Clinical Laboratory Sciences, 2022
Konstantinos I. Tsamis, Constantinos Boutsoras, Evripidis Kaltsonoudis, Eleftherios Pelechas, Ilias P. Nikas, Yannis V. Simos, Paraskevi V. Voulgari, Ioannis Sarmas
In early stages of the disease, due to findings of atrophy and weakness and before the tendon reflexes are diminished, the clinician may consider motor neuron disease as a possible diagnosis. EMG, although needed to orientate the investigation toward muscle pathology, shows nonspecific results. As most cases are diagnosed approximately 5 years from onset, EMG results are often consistent with a chronic myopathy presenting both neuropathic and myopathic findings. Thus, needle EMG examination may be difficult to interpret as both small-short and large-long motor unit action potentials (MUAPs) can be found even in the same muscle. In rare cases, the large-long MUAP may be even more prominent. The recruitment pattern can also be doubtful. Evidence of denervation such as fibrillation potentials and positive sharp waves are present. These cases are even more complicated, as in one-third to one-half of the patients, the nerve conduction studies highlight a mild sensory or sensorimotor neuropathy that is often associated with comorbidities of older age. For other patients with IBM, the EMG findings are typical of IIMs, including small-short and polyphasic MUAPs that often are associated with proximal weakness. It is noteworthy that the disease has an asymmetric pattern and that not all muscles are affected equally [112].
Amino acids profiles of children who stutter compared to their fluent sibling
Published in International Journal of Psychiatry in Clinical Practice, 2020
Mazin Alqhazo, Ayat Bani Rashaid
Threonine is an essential amino acid which is important for regulating protein stability in the body. Because threonine is highly concentrated in the central nervous system, there has been interest in the use of this amino acid in the treatment of amyotrophic lateral sclerosis (Blin et al. 1992; Tandan et al. 1996). Amyotrophic lateral sclerosis is motor neuron disease characterised by stiff muscles and muscle twitching that leads to difficulty in speaking, swallowing, and breathing (Zarei et al. 2015). This amino acid was also included in the treatment of Multiple Sclerosis, including a reduction in spasticity (Hauser et al. 1992). Multiple sclerosis is a disruption of the myelin that covers the nerve cells resulting in a range of symptoms including physical and mental problems such as muscle spasms and difficulty in speech and swallowing (Compston and Coles 2008). Many studies have also found that threonine can help to control depression and can improve mental health (Chalexka-Franaszek and Chuang 1999; Beaulieu 2011). These symptoms associated with deficiency in threonine, could explain the physical and psychological behaviours associated with stuttering such as muscle tension and depression.
Related Knowledge Centers
- Dysphagia
- Motor Neuron
- Muscle Atrophy
- Muscle Weakness
- Spasticity
- Dysarthria
- Skeletal Muscle
- Fasciculation
- Neurodegenerative Disease
- Motor Neuron Diseases