Results 21 to 30 of about 6,021 (155)

Classically Described, Paradoxically Underrecognized

American Journal of Physical Medicine & Rehabilitation, 2020
We present a case of chronic, progressive proximal weakness with dysautonomia and hyporeflexia/areflexia ultimately diagnosed with Lambert-Eaton myasthenic syndrome. An approach to neuroanatomical localization is discussed leading to the appropriate selection of electrodiagnostic studies.
Ario, Mirian, Amit Kumar, Sharma, Michael W, Nicolle   +2 more
openaire   +3 more sources

Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira, Xu Zhang, Takayuki Fujii, Mikio Mitsuishi, Miho Ushijima, Sato Yoshidomi, Ayako Sakoda, Tomohiro Imamura, Satoshi Kuwabara, Noriko Isobe, Yuri Nakamura   +10 more
wiley   +1 more source

Daratumumab Treatment for Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP): A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune‐mediated neuropathy featuring progressive weakness, sensory deficits, and areflexia. While corticosteroids, intravenous immunoglobulin, and plasmapheresis are effective first‐line immunotherapies, a subset of patients remains treatment‐refractory.
Xueyu Zhang, Jianli Zhao, Xue Zhao, Xiaowei Hu, Zichun Xiao, Jie Wu, Xiaowen Li, Jing Xu, Yu‐Jing Li   +8 more
wiley   +1 more source

The Case of a 28‐Year‐Old Man With Gradually Progressive Proximal Leg Weakness

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This is a case of a 28‐year‐old man who presented with a 6‐month history of gradually progressive proximal leg weakness and pain that worsened on exercise and was relieved by rest. He had no symptoms in his upper limbs. Apart from intermittent mild ptosis and diplopia, he had no other cranial nerve symptoms.
Melody T. Asukile, Musambo Kapapa, Emelda Mwingila, Michelle Kvalsund   +3 more
wiley   +1 more source

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, EarlyView.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 157-169, January 2026.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Novel Genetic Findings in Stuve‐Wiedemann Syndrome: A Case Report and Review of Literature

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Stuve‐Wiedemann Syndrome (SWS) is a rare autosomal recessive condition, first reported in 1971 by Stuve and Wiedemann. It is associated with pathogenic or likely pathogenic homozygous or compound heterozygous variants in the Leukemia Inhibitory Factor Receptor (LIFR) gene.
Khalid Hamasalih Hamasharef, Zana Baqi Najmadden, Rozhgar AKhailany, Muhammad Jabar Rashid, Kaiwan Hamakarim   +4 more
wiley   +1 more source

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function [PDF]

, 2019
Next‐generation sequencing (NGS) has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes.
Al-Gazali, L, Al-Jasmi, F, Antonarakis, SE, Arnold, SJ, Bakey, Z, El-Shanti, H, Eng, CM, Hamamy, H, He, W, Helmstädter, M, Hertecant, J, Hunter, JV, Kambouris, M, Karami Madani, G, Karimiani, EG, Liu, P, Lunke, S, Makrythanasis, P, Maroofian, R, Najafi, M, Petersen, A, Rad, A, Rajab, A, Rehman, AU, Richmond, C, Santoni, FA, Schmidts, M, Stark, Z, Tokita, MJ, Vetrini, F, Walkiewicz, M, Wu, K, Xia, F, Yang, Y   +33 more
core   +4 more sources

Identification of Additional Cases of Severe Neonatal GABA‐Transaminase Deficiency

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT GABA‐transaminase (GABA‐T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the ABAT gene. We report a case of a newborn female born to a G10P5 mother, with abnormal fetal movements and polyhydramnios in ...
Deima Alammary, Tisiana Low, Ganesh Srinivasan, Marie‐Claude Dery, Mahmoud Almutadares, Samantha Marin, Mubeen F. Rafay, Katya Rozovsky, Patrick Frosk   +8 more
wiley   +1 more source