Pompe's disease

Ploeg, Ans T. van der; Reuser, Arnold

doi:10.1016/s0140-6736(08)61555-x

Cited by 638 publications

(561 citation statements)

References 126 publications

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“…The HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children is tasked with overseeing the process 5 of adding emerging conditions 6,7 to the recommended panel. The most recent additions are acid α-glucosidase (GAA) deficiency (Pompe disease), 8 α-L-iduronidase (IDUA) deficiency (MPS I), 9 and X-linked adrenoleukodystrophy. 10 Other lysosomal disorders, particularly galactocerebrosidase (GALC) deficiency (Krabbe disease), 11 have been turned down by the committee because they lacked evidence of net benefits.…”

Section: Introductionmentioning

confidence: 99%

Precision newborn screening for lysosomal disorders

Baerg

Stoway

Hart

et al. 2018

Genetics in Medicine

105

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Section: Introductionmentioning

confidence: 99%

Precision newborn screening for lysosomal disorders

Baerg

Stoway

Hart

et al. 2018

Genetics in Medicine

105

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“…The most severe and rapidly progressive infantile form is fatal within the first months of life; in milder childhood, juvenile, and adult forms cardiac muscle is usually spared, but slowly progressive muscle disease eventually leads to respiratory insufficiency and a shortened life expectancy. 22 Current treatment with enzyme replacement therapy (ERT) is very effective in restoring cardiac function and extending the life span of infants, but it fails to significantly reverse or halt the progression of the disease in skeletal muscle. [23][24][25] We have previously shown in the Gaa-KO mouse model that in addition to the enlargement of glycogen-loaded lysosomes, abnormal autophagy, accumulation of autophagic substrates, and impaired autophagosomal-lysosomal fusion greatly contribute to the pathogenesis of muscle damage and to muscle resistance to ERT.…”

Section: Introductionmentioning

confidence: 99%

Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease

et al. 2015

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“…Glycogen-storage disease type 2 (Pompe disease) may present prominent clinical resemblance to limb girdle muscular dystrophy, with predominant proximal weakness and autosomal recessive inheritance 18 . Some peculiar clinical characteristics may suggest Pompe disease diagnosis such as respiratory insufficiency and increased tongue volume 18 .…”

Section: How Do We Know If Our Patients Have a Limb Girdle Muscular Dmentioning

confidence: 99%

“…Some peculiar clinical characteristics may suggest Pompe disease diagnosis such as respiratory insufficiency and increased tongue volume 18 . Sometimes, respiratory insufficiency may manifest exclusively as increased susceptibility to respiratory infections, matinal headache, and daily somnolence, due to nocturnal hypoxia 19 .…”

Section: How Do We Know If Our Patients Have a Limb Girdle Muscular Dmentioning

confidence: 99%

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Cotta¹,

Carvalho²,

da-Cunha-Júnior³

et al. 2014

Arq. Neuro-Psiquiatr.

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Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagnosis of common autosomal recessive limb girdle muscular dystrophy subtypes diagnosed nowadays at one reference center in Brazil. Preoperative image studies guide muscle biopsy site selection. Muscle involvement image pattern differs depending on the limb girdle muscular dystrophy subtype. Muscle involvement is conspicuous at the posterior thigh in calpainopathy and fukutin-related proteinopathy; anterior thigh in sarcoglycanopathy; whole thigh in dysferlinopathy, and telethoninopathy. The precise differential diagnosis of limb girdle muscular dystrophies is important for genetic counseling, prognostic orientation, cardiac and respiratory management. Besides that, it may probably, in the future, provide specific genetic therapies for each subtype.Keywords: muscular dystrophies, ultrasonography, biopsy, magnetic resonance imaging, neuromuscular diseases. RESUMOAs distrofias musculares progressivas cintura-membros são desordens neuromusculares hereditárias autossômicas heterogêneas. Elas produzem alterações distróficas à biópsia muscular e estão associadas a mutações em diversos genes envolvidos na estrutura e função muscular. Fluxograma diagnóstico, fotos, tabelas e diagramas ilustrados dos aspectos clínicos, laboratoriais e de imagem são apresentados para o diagnóstico diferencial de distrofias musculares cintura-membros autossômicas recessivas comuns, diagnosticadas atualmente em um centro de referência no Brasil. Exames de imagem pré-operatórios direcionam o local da biópsia muscular. O padrão de envolvimento muscular difere de acordo com o subtipo de distrofia muscular cintura-membros. A substituição fibroadiposa do tecido muscular é mais acentuada no compartimento posterior da coxa na calpainopatia e proteinopatia relacionada à fukutina; anterior da coxa na sarcoglicanopatia; difusa na coxa na disferlinopatia e teletoninopatia. O diagnóstico diferencial preciso das distrofias musculares cintura-membros é importante para o aconselhamento genético, orientação prognóstica, tratamento cardíaco e respiratório. Além disso poderá, no futuro, provavelmente, propiciar terapias gênicas específicas para cada subtipo.Palavras-chave: distrofias musculares, ultrassonografia, biópsia, imagem por ressonância magnética, doenças neuromusculares.

show abstract

Pompe's disease

Cited by 638 publications

References 126 publications

Precision newborn screening for lysosomal disorders

Precision newborn screening for lysosomal disorders

Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

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