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Quoted phrase not found in phrase index: "Late-onset proximal muscle weakness"
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The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS. Chan J, et al. Mol Genet Metab. 2017 Mar;120(3):163-172. doi: 10.1016/j.ymgme.2016.12.004. Epub 2016 Dec 11. Mol Genet Metab. 2017. PMID: 28185884 Review.
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid alpha-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primar …
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid alpha-gl …
Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J. Finsterer J. J Clin Neuromuscul Dis. 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422. J Clin Neuromuscul Dis. 2023. PMID: 36809201
The canonical phenotypic features of NARP syndrome include proximal muscle weakness, axonal neuropathy, cerebellar ataxia, and retinitis pigmentosa. ...In most of the cases, patients die prematurely. Patients with late-onset NARP survive longer. …
The canonical phenotypic features of NARP syndrome include proximal muscle weakness, axonal neuropathy, cerebellar atax …
Motor Function Characteristics of Adults With Late-Onset Pompe Disease: A Systematic Scoping Review.
Maulet T, Bonnyaud C, Weill C, Laforêt P, Cattagni T. Maulet T, et al. Neurology. 2023 Jan 3;100(1):e72-e83. doi: 10.1212/WNL.0000000000201333. Epub 2022 Oct 27. Neurology. 2023. PMID: 36302669 Free article.
BACKGROUND AND OBJECTIVES: Pompe disease is a rare neuromuscular disease caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase. The late-onset Pompe disease (LOPD) in adults is characterized by weakness of ventilatory, axial, and proximal …
BACKGROUND AND OBJECTIVES: Pompe disease is a rare neuromuscular disease caused by a deficiency of the lysosomal enzyme acid alpha-glucosida …
A systematic review of adult-onset clinically amyopathic dermatomyositis (dermatomyositis siné myositis): a missing link within the spectrum of the idiopathic inflammatory myopathies.
Gerami P, Schope JM, McDonald L, Walling HW, Sontheimer RD. Gerami P, et al. J Am Acad Dermatol. 2006 Apr;54(4):597-613. doi: 10.1016/j.jaad.2005.10.041. Epub 2006 Jan 23. J Am Acad Dermatol. 2006. PMID: 16546580 Review.
Some CADM patients also have been observed to develop overt proximal muscle weakness years after onset of their DM skin disease. ...Population-based studies of the epidemiology and optimal management of CADM patients, including efforts to identify risk factor …
Some CADM patients also have been observed to develop overt proximal muscle weakness years after onset of their DM skin …