Bent spine syndrome as the initial symptom of late-onset Pompe disease

Autor:	Nicolas, Taisne, Claude, Desnuelle, Raul, Juntas Morales, Xavier, Ferrer Monasterio, Sabrina, Sacconi, Fanny, Duval, Guilhem, Sole, René Marc, Flipo, Arnaud, Lacour, Patrick, Vermersch, Thierry, Cardon
Rok vydání:	2016
Předmět:	Male Muscular Atrophy Spinal Early Diagnosis Glycogen Storage Disease Type II Humans Female Middle Aged Magnetic Resonance Imaging Spinal Curvatures Aged
Zdroj:	Musclenerve. 56(1)
ISSN:	1097-4598
Popis:	Late-onset Pompe disease (LOPD) is a rare disorder characterized by progressive proximal muscle weakness and early respiratory insufficiency, for which enzyme replacement therapy (ERT) is available.Having diagnosed a case of LOPD presenting with bent spine syndrome, we conducted a brief survey in the French centers involved in management of Pompe disease, from which we collected data on 3 other cases.The patients (3 women and 1 man) had a mean age of 64 years (range 51-77 years) and a delay in diagnosis of approximately 10 years (range 8-42 years). At diagnosis, 3 patients already had respiratory symptoms. All had normal or very mildly raised creatine kinase levels and magnetic resonance imaging abnormalities in the paraspinal muscles. They exhibited the most frequent mutation in Pompe disease (c.-32-13 TG).Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. Muscle Nerve 56: 167-170, 2017.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::17063cffc0ae3247a96c9e87d2c9b63d https://pubmed.ncbi.nlm.nih.gov/27862019 Zobrazit plný text záznamu Plný text