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Chronic Denervation Myopathy
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Patients usually experience progressive muscular atrophy and weakness. Cognition and intellect are not affected. Many affected patients are born with floppy baby syndrome, whereas adult cases may have better motor function. SMA used to be diagnosed by muscle biopsy that typically shows denervation atrophy; in particular, features of group atrophy, hypertrophied type 1 fibers, and small fibers either mixed or type 2 (Figure 21.3). Muscle biopsy is done only for diagnostic exclusion of SMA and is not used as a confirmatory tool. Genetic testing looking for SMN1 deletion widely replaced the muscle biopsy. Because the disease is associated with poor outcomes, multidisciplinary management of different care supports is required.
Spinal Cord Disease
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Favorable prognostic factors include: Early age of onset (some may survive 20 years).Progressive muscular atrophy.Primary lateral sclerosis: mean disease duration: 15 years (median: 19 years).
Hereditary Spastic Paraparesis and Other Hereditary Myelopathies
Published in Anand D. Pandyan, Hermie J. Hermens, Bernard A. Conway, Neurological Rehabilitation, 2018
Jon Marsden, Lisa Bunn, Amanda Denton, Krishnan Padmakumari Sivaraman Nair
Motor neuron disease: amyotrophic lateral sclerosis (ALS) accounts for 70–90% of cases of motor neuron disease and is characterised by predominant lower motor neuron (LMN) signs of weakness in combination with mild UMN signs of spasticity and brisk reflexes. A minority of people with ALS, termed UMN-Dominant, have pyramidal signs and severe spino-bulbar spasticity with slight LMN signs. In 2–5% of people with motor neuron disease there is exclusive involvement of UMNs, termed primary lateral sclerosis. In contrast, people without any clinical or electrophysiological UMN signs and only LMN signs are labeled as progressive muscular atrophy. The remaining subtypes of MND are characterised by LMN signs affecting the bulbar muscles (progressive bulbar palsy) or UMN involvement affecting the bulbar muscles (pseudobulbar palsy).150
Transcranial magnetic stimulation to monitor disease progression in ALS: a review
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2023
Mamede De Carvalho, Michael Swash
We identified 4 publications that studied longitudinal changes in CMT in ALS patients. Zanette et al. (16) investigated a group of 9 patients with normal early inhibitory cortical circuits at baseline; recordings from the thenar eminence revealed no significant change after an average time of 7 months. Mills (17), studying responses in the first dorsal interosseous muscle (FDI), reported no change in CMT in a large group of patients, evaluated at intervals of about 3 months, with a mean of 3.1 follow-up studies. However, two other groups reported different results. Floyd et al. (18) investigated 30 patients with 2 or more follow-up studies over 18 months. Recording from the abductor digit minimi muscle (ADM), they observed an increment in CMT of 1.8%/month. In patients with progressive muscular atrophy there was no change in CMT. Using the same muscle, de Carvalho and Swash (19) studied 28 patients followed over 6 months; they reported a CMT increment of 1.5%/month.
ALSUntangled #65: glucocorticoid corticosteroids
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2023
Jill Ann Goslinga, Mark Terrelonge, Richard Bedlack, Paul Barkhaus, Benjamin Barnes, Tulio Bertorini, Mark Bromberg, Gregory Carter, Amy Chen, Jesse Crayle, Mazen Dimachkie, Leanne Jiang, Gleb Levitsky, Isaac Lund, Sarah Martin, Christopher Mcdermott, Gary Pattee, Kaitlyn Pierce, Dylan Ratner, Lenka Slachtova, Yuyao Sun, Paul Wicks
In another series, 26 patients received weekly intrathecal injections of 50 mg of hydrocortisone and 1000 mg of vitamin B12. Twenty-one of these were able to complete at least 16 intrathecal injections. At the end of 10 months of observation, 1 patient had improved slightly, 2 were in the same condition, 14 had become more severely affected, and 4 had died. Two patients no longer met inclusion criteria as they concurrently were taking a separate herb therapy. The 2 patients in the same condition had progressive muscular atrophy and primary lateral sclerosis, both of which can be associated with slower progression. The one patient who initially showed slight improvement had continued disease progression by month 12. This case series was thus unable to confirm convincing benefits from steroids (24).
Adolf Kussmaul (1822–1902), and the naming of “poliomyelitis”
Published in Journal of the History of the Neurosciences, 2022
Nadeem Toodayan, Eric Matteson
Kussmaul and his assistants weighed in on the notion that infantile spinal paralysis was not strictly restricted to infants, and provided further clinical evidence to suggest that there existed acute and subacute subtypes of the disease. They clinically differentiated the illness from a peripheral variant of motor neuron disease (progressive muscular atrophy), recording substantial recoveries in several cases to help further distinguish these sometimes-similar phenotypes. As none of their patients had died, the pair was unable to prove the pathological site of the suspected anterior horn lesions at autopsy. The cases described by Frey and Kussmaul could today be ascribed to various affectations of the lower motor neuron pathway from the ventral horn downward, including viral poliomyelitis.