Results 341 to 350 of about 121,688 (385)

Topical Review: Progressive Spinal Muscular Atrophies

Journal of Child Neurology, 1999
Spinal muscular atrophy is the most common autosomal-recessive genetic disorder lethal to infants. It was first described in the 1890s. Since then our understanding of the disorder has progressed significantly. Progression of the disease is due to loss of anterior horn cells, thought to be caused by apoptosis.
Gihan Tennekoon, Jonathan B. Strober
openaire   +2 more sources

Progress in spinal muscular atrophy research

Current Opinion in Neurology, 2022
Purpose of review The development of new therapies has brought spinal muscular atrophy (SMA) into the spotlight. However, this was preceded by a long journey – from the first clinical description to the discovery of the genetic cause to molecular mechanisms of RNA and DNA technology.
Claudia, Wurster, Susanne, Petri
openaire   +2 more sources

A breakthrough effect of gene replacement therapy on respiratory outcomes in children with spinal muscular atrophy

Pediatric Pulmonology, 2022
Spinal muscular atrophy (SMA) is an inherited progressive neuromuscular disorder characterized by generalized hypotonia, respiratory failure and early death.
Amal AlNaimi, S. Hamad, R. Mohamed, T. Ben-Omran, K. Ibrahim, Mahmoud Fawzi El‐Said Osman, M. Abu-Hasan   +6 more
semanticscholar   +1 more source

Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study

European Journal of Neurology
Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable change (MDC), and values for the ...
G. Coratti, F. Bovis, M. Pera, M. Scoto, Jacqueline Montes, A. Pasternak, Anna G. Mayhew, R. Muni-Lofra, Tina Duong, A. Rohwer, Sally Dunaway Young, M. Civitello, Francesca Salmin, Irene Mizzoni, S. Morando, Marika Pane, E. Albamonte, Adele D'Amico, N. Brolatti, M. Sframeli, C. Marini-Bettolo, V. Sansone, Claudio Bruno, S. Messina, E. Bertini, Giovanni Baranello, John W. Day, Basil T. Darras, D. D. De Vivo, Michio Hirano, F. Muntoni, Richard S. Finkel, Eugenio Mercuri   +32 more
semanticscholar   +1 more source

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Epileptic disorders, 2016
A rare syndrome characterized by lower motor neuron disease associated with progressive myoclonic epilepsy, referred to as "spinal muscular atrophy associated with progressive myoclonic epilepsy" (SMA-PME), has been described in childhood and is ...
H. Topaloğlu, J. Melki
semanticscholar   +1 more source

THE PATHOLOGY OF AMYOTONIA CONGENITA: A DISCUSSION OF ITS RELATION TO INFANTILE PROGRESSIVE MUSCULAR ATROPHY

, 1927
Oppenheim, 1 who first described amyotonia congenita as a new clinical entity, considered the condition a primary disease either of the muscle or of the lower motor neuron.
R. Grinker
semanticscholar   +1 more source

PERONEAL FORM OF PROGRESSIVE MUSCULAR ATROPHY: A CLINICAL REPORT OF TWO FAMILIES

, 1927
A controversy has arisen recently between Roussy and Levy on the one hand and Symonds and Shaw on the other, over the classification of two groups of cases which these observers have studied.
Adolph Eisenbud, M. Grossman
semanticscholar   +1 more source

AN ENCEPHALITIC RESIDUAL SIMULATING PROGRESSIVE MUSCULAR ATROPHY OF SHOULDER GIRDLE TYPE

, 1926
The etiology of primary progressive muscular atrophy is unknown. Exposure to cold, overexertion, fatigue, trauma, toxins and infections, and hereditary and familial tendencies have been mentioned.
A. D. Carr
semanticscholar   +1 more source

The history of progressive muscular atrophy

Neurology, 2008
Since its first description more than a century ago, there has been much debate about the diagnostic entity progressive muscular atrophy (PMA). Initially, PMA included all forms of progressive amyotrophy. With the identification of several myogenic and neurogenic diseases and the recognition of amyotrophic lateral sclerosis (ALS), PMA was deemed to ...
J. M. B. Vianney de Jong, Jeldican Visser, Marianne de Visser   +2 more
openaire   +3 more sources

Unilateral progressive muscular atrophy with fast symptoms progression

Neurologia i Neurochirurgia Polska, 2016
Progressive muscular atrophy (PMA), or the lower motor neuron disease, is a sporadic disorder characterized by onset in adulthood, pure lower motor neuron involvement and relatively benign course. Muscle atrophy and weakness may be symmetrical or asymmetrical, but they are always bilateral.
Justyna Pigońska, Agata Gajos, Iwona Szadkowska, Andrzej Bogucki   +3 more
openaire   +3 more sources