Skeletal muscle and motor deficits in Neurofibromatosis Type 1

Autor:	Ma, Summers, Kg, Quinlan, Jonathan Payne, Dg, Little, Kn, North, Schindeler A
Předmět:	Adult Male congenital hereditary and neonatal diseases and abnormalities Evidence-Based Medicine Movement Disorders Neurofibromatosis 1 Adolescent Reviw Article Neuropathy Young Adult Weakness NF1 Humans Muscle Female Neurofibromatosis Type 1 Child Muscle Skeletal
Zdroj:	Europe PubMed Central Journal of Musculoskeletal & Neuronal Interactions
Popis:	Neurofibromatosis Type 1 (NF1) is a genetic neurocutaneous disorder with multisystem manifestations, including a predisposition to tumor formation and bone dysplasias. Studies over the last decade have shown that NF1 can also be associated with significant motor deficits, such as poor coordination, low muscle tone, and easy fatigability. These have traditionally been ascribed to developmental central nervous system and cognitive deficits. However, recent preclinical studies have also illustrated a primary role for the NF1 gene product in muscle growth and metabolism; these findings are consistent with clinical studies demonstrating reduced muscle size and muscle weakness in individuals with NF1. Currently there is no evidence-based intervention for NF1 muscle and motor deficiencies; this review identifies key research areas where improved mechanistic understanding could unlock new therapeutic options.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::78e38a608e101c5deb3aeaffe979493d http://europepmc.org/abstract/med/26032208 Zobrazit plný text záznamu