scholarly journals Recomendações para o Diagnóstico da Forma Tardia da Doença de Pompe

2014 ◽  
Vol 27 (4) ◽  
pp. 525 ◽  
Author(s):  
Luís Brito-Avô ◽  
José Delgado Alves ◽  
João Matos Costa ◽  
Ana Valverde ◽  
Lélita Santos ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Pompe Disease ◽  
Storage Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Neuromuscular Diseases ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Diagnostic Challenge

<strong>Introduction:</strong> Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge.<br /><strong>Objective:</strong> To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease.<br /><strong>Material and Methods:</strong> Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting.<br /><strong>Recommendations:</strong> Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.<br /><strong>Keywords:</strong> Age of Onset; Consensus; Glycogen Storage Disease Type II.

Pompe Disease

2016 ◽  
Author(s):  
Ans T. van der Ploeg ◽  
Pascal Laforêt
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Data Gathering ◽  
Autosomal Recessive Disorder ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Walking Distance ◽  
Patient Registries ◽  
Enzyme Replacement ◽  
Progressive Muscle Weakness

Pompe disease, also named acid maltase deficiency and glycogen storage disease type II (GSDII), is a rare autosomal recessive disorder caused by the deficiency of the glycogen-degrading lysosomal enzyme acid α‎-glucosidase. The clinical spectrum of this disease is broad, varying from a lethal infantile-onset generalized myopathy including cardiomyopathy, to late-onset slowly progressive muscle weakness mimicking limb-girdle muscular dystrophy. Respiratory insufficiency is a frequent complication and the main cause of death. The prognosis of Pompe disease has changed considerably with the use of enzyme replacement therapy using recombinant acid α‎-glucosidase (alglucosidase alfa), which has been widely available since 2006. Improvements in survival and major motor achievements can be observed in patients with infantile forms, and recent studies demonstrate improvement of walking distance and stabilization of pulmonary function in late-onset forms. A longer-term study of the safety and efficacy of ERT, based on data gathering across the complete spectrum of Pompe disease via national or international patient registries, is needed in order to formulate more precise guidelines for treatment.

scholarly journals Pompe disease, a storage cardiomyopathy

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Tiziana Felice
Keyword(s):  
Pompe Disease ◽  
Age Of Onset ◽  
Late Onset ◽  
Treatment Options ◽  
Premature Death ◽  
Glycogen Storage Disease Type ◽  
Lysosomal Storage ◽  
Respiratory Compromise ◽  
Enzyme Replacement ◽  
Geographical Regions

Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal storage disorder caused by the deficiency of the enzyme acid α-glucosidase. This results in the accumulation of glycogen in various tissues particularly involving the heart, skeletal muscle and liver. It is inherited in an autosomal recessive manner due to mutations in the GAA gene. There are several known pathogenic variants, some of which are particularly common in certain geographical regions. Pompe disease is a single disease exhibiting a heterogeneous clinical spectrum depending on the extent of enzyme deficiency, the age of onset, the progression of the disease and the degree of organ involvement. It may lead to muscle weakness, hypotonia, respiratory compromise and premature death. Pompe disease is classically divided into two forms, infantile and late-onset disease. The infantile form is further subdivided into classical and non-classical subtypes. Cardiac involvement is particularly seen in the infantile phenotype of the condition, presenting as severe cardiomyopathy associated with conduction abnormalities. Enzyme replacement therapy with recombinant human acid α-glucosidase is the approved treatment option for patients with this metabolic condition. Further research is currently being done to explore more treatment options. One must keep in mind other metabolic and mitochondrial conditions, which may give a similar cardiac and neurological clinical picture.

Polyglucosan Bodies in Placental Extravillious Trophoblast for the Diagnosis of Fatal Perinatal Neuromuscular-type Glycogen Storage Disease Type IV

2017 ◽  
Vol 21 (4) ◽  
pp. 423-427 ◽  
Author(s):  
Weiming Yu ◽  
Marie-Anne Brundler ◽  
James R Wright
Keyword(s):  
Glycogen Storage Disease ◽  
Muscle Biopsy ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Extravillous Trophoblast ◽  
Pathological Examination ◽  
Polyglucosan Bodies ◽  
Type Iv

The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV (GSD IV). We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia. Placental examination revealed numerous periodic acid schiff-positive diastase-resistant polyglucosan bodies in the cytoplasm of extravillous trophoblast predominantly in the placental basal plate. Muscle biopsy and autopsy findings supported a diagnosis of neuromuscular-type glycogen storage disease type IV with extensive involvement of skeletal muscle, heart, and liver. The diagnosis was confirmed by molecular genetic testing. We could only find 1 prior report in the English literature that describes placental pathological changes. Our findings suggest that placental examination can be a useful adjunct for early diagnosis, as placentas are often received for pathological examination shortly after birth and usually before a diagnostic muscle biopsy can be performed. Pathologists need to be aware of characteristic placental features.

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