Multisystem late onset Pompe disease (LOPD): an update on clinical aspects
نویسندگان
چکیده
منابع مشابه
Clinical guidelines for late-onset Pompe disease.
Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe dise...
متن کاملEarly is better? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD)
Pompe disease, also known as Glycogen Storage Disease type II (GSD II), is a rare autosomal recessive disorder , due to α-glucosidase A (GAA) deficiency. This was the first disease identified as a lysosomal storage disorder in 1963 (1) and is characterized by a glycogen accumulation in multiple tissues with a predilection of skeletal muscle and heart. Depending on age of onset, two different cl...
متن کاملHighlighting intrafamilial clinical heterogeneity in late-onset Pompe disease☆
BACKGROUND/AIMS Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity. The aim of this short communication is to highlight the clinical variability of Pompe disease within siblings suffering from the disease. CA...
متن کاملHypothyroidism in late-onset Pompe disease
PURPOSE In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms). Symptoms common to all phenotypes include progressive muscle weakness and worsening respiratory function. Patients with late-onset forms of Pompe d...
متن کاملLate-Onset Pompe Disease: A Multisystemic Disorder.
Gastrointestinal problems including dysphagia (5/58, resulting in aspiration in 2), constipation (10/58), poor nutrition (20/58) were common and volvulus occurred in 1 patient. Fatigue and diffi culties with concentration were common. Cerebral vascular anomalies were found in 2 of 10 patients screened, with 1 patient presenting with intracranial haemorrhage. Pain was seen frequently, with both ...
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ژورنال
عنوان ژورنال: Annals of Translational Medicine
سال: 2019
ISSN: 2305-5839,2305-5847
DOI: 10.21037/atm.2019.07.24