Results 81 to 90 of about 1,977 (181)

Zdravljenje prvih bolnikov z gensko nadomestno terapijo v Sloveniji; otroka s spinalno mišično atrofijo, ki sta se zdravila z zdravilom onasemnogene abeparvovek

Zdravniški Vestnik
Spinalna mišična atrofija (SMA) je redka genetska bolezen, ki prizadene motorične nevrone, zaradi česar propadajo mišice ter se slabša splošno stanje bolnika.
Eva Vrščaj, Tanja Golli, Tanja Loboda, Alenka Piskar, Matjaž Homan, Damjan Osredkar   +5 more
doaj   +1 more source

Respiratory morbidity in patients with spinal muscular atrophy—a changing world in the light of disease-modifying therapies

Frontiers in Pediatrics
Respiratory complications are common in spinal muscular atrophy (SMA) and significantly contribute to morbidity and mortality in these patients. Generalized respiratory and bulbar muscle weakness translates into diverse and complex clinical consequences ...
Leen Lagae, Marijke Proesmans, Marijke Proesmans, Marleen Van den Hauwe, Marleen Van den Hauwe, François Vermeulen, François Vermeulen, Liesbeth De Waele, Liesbeth De Waele, Mieke Boon, Mieke Boon   +10 more
doaj   +1 more source

JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam

: Risdiplam is a once-daily oral, survival of motor neuron 2 (SMN2) splicing modifier approved for the treatment of spinal muscular atrophy (SMA).
Kostera-Pruszczyk A., Fontoura P., Mercuri E., Jaber B., Chiriboga C. A., Martin C., Kirschner J., Duong T., Gorni K., Muntoni F., Carruthers I., Bruno C., Fischer D., Scalco R. S., Kletzl H.   +14 more
core   +2 more sources

Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction

BMC Neurology
Background We aimed to describe the experience of a single neuromuscular center in Germany in treating adult spinal muscular atrophy (SMA) patients with risdiplam and to analyze motor function and treatment satisfaction during a follow-up period up to 20 
Bogdan Bjelica, Camilla Wohnrade, Iraima Cespedes, Alma Osmanovic, Olivia Schreiber-Katz, Susanne Petri   +5 more
doaj   +1 more source

Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience

Annals of Indian Academy of Neurology
Background and Objectives: Spinal muscular atrophy (SMA) is the most common neurodegenerative disorder in children, with an incidence of 1 in 6000–10000 live births. It is characterized by progressive lower motor neuron weakness.
Hafsa, Smilu Mohanlal, PM Mubeena, Aarthi Balaji, S Pramod, Suresh Kumar, Divya Pachat   +6 more
doaj   +1 more source

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients

Children
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
doaj   +1 more source

Managing Spinal Muscular Atrophy: A Look at the Biology and Treatment Strategies

Biology
Since its discovery in the late 19th century, spinal muscular atrophy (SMA) has had a significant medical and societal impact, primarily affecting newborns, toddlers, and young adults.
Arianna Vezzoli, Daniele Bottai, Raffaella Adami   +2 more
doaj   +1 more source

Clinical characteristics of the included cases treated with risdiplam and the associated adverse events.

Clinical characteristics of the included cases treated with risdiplam and the associated adverse events.
Limei Liu (134888), Lurong Yu (18086654)
core   +1 more source

Risdiplam

American Journal of Health-System Pharmacy, 2020
openaire   +2 more sources

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

Frontiers in Neurology
Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes characterized by the gradual weakening and deterioration of muscles, often leading to substantial disability and premature mortality.
Pankaj Bagga, Sudhakar Singh, Gobind Ram, Subham Kapil, Avtar Singh   +4 more
doaj   +1 more source