Results 11 to 20 of about 37,969 (302)

Progressive Spinal Muscular Atrophies [PDF]

Archives of Disease in Childhood, 1984
D. Gardner Medwin
  +6 more sources

Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report

Journal of Rehabilitation Medicine - Clinical Communications, 2022
Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative ...
Vincent Shieh, Cris Zampieri, Paul Stout, Galen O. Joe, Angela Kokkinis, Kenneth H. Fischbeck, Christopher Grunseich, Joseph A. Shrader   +7 more
doaj   +1 more source

Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1 [PDF]

Kosin Medical Journal, 2019
Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis ...
Min-Jung Cho
doaj   +1 more source

Report of a Patient with Multiple Mutations Leading to Charcot-Marie-Tooth Disease and Distal Spinal Muscular Atrophy: A Case Report

Iranian Journal of Public Health, 2020
The Charcot-Marie-Tooth disease is a group of progressive disorders that affects the peripheral nerves and results in loss of sensation and atrophy of muscles in lower limbs.
Atefeh MEHRABI, Dariush D. FARHUD, Karim NAYERNIA, Hossein SADIGHI, Marjan ZARIF-YEGANEH   +4 more
doaj   +1 more source

Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report

Journal of Medical Case Reports, 2022
Background Spinal muscular atrophy is a genetic disorder characterized by degeneration of lower motor neurons, leading to progressive muscular atrophy and even paralysis.
Cempaka Thursina Srie Setyaningrum, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Irwan Taufiqur Rachman, Nur Imma Fatimah Harahap   +4 more
doaj   +1 more source

Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report

Нервно-мышечные болезни, 2020
The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes.
E. O. Ivanova, E. Yu. Fedotov, S. N. Illarioshkin   +2 more
doaj   +1 more source

Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series

Journal of Medical Case Reports, 2022
Background Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first ...
Cempaka Thursina Srie Setyaningrum, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Ahmad Hamim Sadewa, Giga Hasabi Alkarani, Nur Imma Fatimah Harahap   +6 more
doaj   +1 more source

A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

Clinical Case Reports, 2021
A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
Isa Abdi Rad, Ali Vahabi, Elinaz Akbariazar   +2 more
doaj   +1 more source

Use of Creatine Monohydrate in MDX Mice: Morphometric and Stereological Analysis of the Diaphragm [PDF]

Modern Medicine, 2023
Duchenne muscular dystrophy is a genetic disease that is clinically manifested by progressive muscle atrophy, followed by loss of strength, motor coordination and functional impairment.
Victor Augusto Ramos FERNANDES, Amilton IATECOLA, Marcelo Rodrigues da CUNHA, Giovanna Camarotto PATAH, Dante GUARNIER, João Vitor Monteiro de OLIVEIRA, Maria Carolina DELFORNO, Giovanna Cavalcanti BANOV, Mariana SHMAYEV, Julia Valencio Alves LEANDRO, Kadu Ferreira Gonçalves TEIXEIRA, Eduardo José CALDEIRA   +11 more
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Spinal Muscular Atrophy With Myoclonic Epilepsy

Archives of Epilepsy, 2017
Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Buket ÖZKARA, Faik BUDAK
doaj   +1 more source