Motor neuropathies and lower motor neuron syndromes.
Motor neuropathies and lower motor neuron syndromes. Rev Neurol (Paris). 2017 Apr 20;: Authors: Verschueren A Abstract Motor or motor-predominant neuropathies may arise from disease processes affecting the motor axon and/or its surrounding myelin. Lower motor neuron syndrome (LMNS) arises from a disease process affecting the spinal motor neuron itself. The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. They can be acquired or hereditary. Immune-mediated neuropathies (multifocal motor neuropathy, motor-predominant chronic inflammatory demyelinating polyneuropathy) are important to identify, as effective treatments are available. Other acquired neuropathies, such as infectious, paraneoplastic and radiation-induced neuropathies are also well known. Focal LMNS is an amyotrophic lateral sclerosis (ALS)-mimicking syndrome especially affecting young adults. The main hereditary LMNSs in adulthood are Kennedy's disease, late-onset spinal muscular atrophy and distal hereditary motor neuropathies. Motor neuropathies and LMNS are all clinical entities that should be better known, despite being rare diseases. They can sometimes be difficult to differentially diagnose from other diseases, particularly from the more frequent ALS in its pure LMN form. Nevertheless, correct identification of t...
Authors: Han HJ, Park HJ, Yun U, Choi YC PMID: 33029983 [PubMed]
CONCLUSIONS: Subcortical gray-matter structures are involved in the neurodegenerative process of ALS before cognitive impairment becomes evident. PMID: 33029965 [PubMed]
CONCLUSIONS: We have performed a validation study of the Korean version of a disease-specific functional rating scale for SBMA patients. The SBMAFRS is a useful tool for clinical practice and as a potential outcome measure for Korean SBMA patients. PMID: 33029964 [PubMed]
In conclusion, the presence of anti-SOX1 abs alone is a potential predictor of an uncommon paraneoplastic neurological disorder, usually occurring in the setting of LEMS, PCD, and SCLC. The detection of anti-SOX1 abs contributes to an early diagnosis of underlying tumors, given the diversity of clinical symptoms and the absence of characteristic neuroimaging features. PMID: 33029958 [PubMed]
CONCLUSIONS: Hence, it is important to work with patients and their families to identify and strengthen adaptive and coping behaviors. That is possible only through the synergistic working of a multidisciplinary team made up of experienced doctors, psychologists, and social workers while in contact with patient Associations. PMID: 33034432 [PubMed - as supplied by publisher]
Conclusions. The nerve roots of CIDP, Charcot-Marie-Tooth disease type-1, and polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome were difficult to distinguish by MRN. Atypical CIDP patients had less nerve root injury compared with typical CIDP patients. MRN of either the brachial plexus or the lumbosacral plexus had a high diagnostic accuracy for CIDP, and it is not necessary to perform both parts of the examination. Level of Evidence: 2
In this interview, she reflects on the CDER's accomplishments in the field of rare diseases and what it's like to be overseeing the therapeutics component of Operation Warp Speed amid the COVID-19 pandemic.Medscape Medical News
Remarks by Stephen Hahn, MD Commissioner of Food and Drugs Dr. Hahn's Remarks to the 2020 NORD Rare Disease Summit Washington, DC Oct. 8, 2020
Conclusion: Our data documented drug efficacy that is satisfactory for this high-risk subset of patients with an acceptable toxicity profile. Results indicate that pixantrone could be a significant treatment option in patients with R/R aggressive DLBCL treated in everyday clinical practice.Acta Haematol
CONCLUSIONS: Lanadelumab is an effective but expensive long-term prophylaxis for HAE patients. A favorable side-effect profile has been shown. J Drugs Dermatol. 2020;19(10):978-983. doi:10.36849/JDD.2020.5269. PMID: 33026762 [PubMed - as supplied by publisher]