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[Alarming signs and symptoms in the early diagnostics of late onset Pompe disease: super omnia clinica].
- Source :
-
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2015; Vol. 115 (12), pp. 19-24. - Publication Year :
- 2015
-
Abstract
- Pompe disease (PD) is a rare autosomal recessive muscle lysosomal glycogenosis caused by a deficiency of acid-α-glucosidase. There are two main forms of the disease: aggressive infantile PD started within the first year of life with a severe enzyme deficiency and multiorgan involvement, and late onset PD (LOPD) with progressive signs and symptoms including predominant proximal, axial muscle weakness and respiratory insufficiency started at any time from 1 till 75 years and older. Usually due to physician's unawareness, most adults with PD are diagnosed with great delay. The typical features and early nonspecific signs in four patients, aged between 35 and 72 years, with confirmed LOPD are delineated and discussed in correspondence with the age of first signs, age development of muscle weakness, distribution and age of final diagnosis. The disorders for differential diagnosis and spectrum of conditions that expanded the possibility of PB are listed. The fluorometrically analyzed level of acid α-glucosidase from dried blood spots is considered to be the first choice diagnostic method for clinically suspected cases of LOPD.
- Subjects :
- Adult
Aged
Diagnosis, Differential
Early Diagnosis
Female
Fluorometry
Glycogen Storage Disease Type II complications
Humans
Infant
Late Onset Disorders complications
Male
Middle Aged
Muscle Weakness diagnosis
Muscle Weakness etiology
Muscle, Skeletal physiopathology
alpha-Glucosidases deficiency
Glycogen Storage Disease Type II diagnosis
Glycogen Storage Disease Type II enzymology
Late Onset Disorders diagnosis
Late Onset Disorders enzymology
alpha-Glucosidases blood
Subjects
Details
- Language :
- Russian
- ISSN :
- 1997-7298
- Volume :
- 115
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
- Publication Type :
- Academic Journal
- Accession number :
- 26978490
- Full Text :
- https://doi.org/10.17116/jnevro201511511219-24