MedLink Neurology Podcast is delighted to feature selected episodes from BrainWaves, courtesy of James E Siegler MD, its originator and host. BrainWaves is an academic audio podcast whose mission is to educate medical providers through clinical cases and topical reviews in neurology, medicine, and the humanities. Episodes originally aired from 2016 to 2021.
Originally released: October 17, 2019
College is a tough time for any kid. But it should also be exciting. Then to experience the freedoms of young adulthood, only later to face the horrifying reality of a progressive neurodegenerative condition...it's not something anyone should experience. In this week's continuation of the patient narrative series, Dr. Paul McIntosh (Duke) shares his life-changing story and his optimism about surviving a chronic neurologic illness.
Produced by James E Siegler with the help of Paul McIntosh. For more information about Pompe Disease, check out the resources provided by the United Pompe Foundation at unitedpompe.com. Music for our program this week was courtesy of Ars Sonor, Franz Danzi, Lee Rosevere, and Scott Holmes. Sound effects by Mike Koenig and Daniel Simion. BrainWaves' podcasts and online content are intended for medical education only and should not be used for clinical decision-making. Be sure to follow us on Twitter (now X) @brainwavesaudio for the latest updates to the podcast.
REFERENCES
Beltran Papsdorf TB, Howard JF Jr, Chahin N. Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency. Neurology 2014;82(9):e73-5. PMID 24590251
Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012;45(3):319-33. PMID 22173792
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord 2015;25(7):548-53. PMID 25998610
Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004;144(5 Suppl):S35-43. PMID 15126982
Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68(2):99-109. PMID 17151339
Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005;15(1):24-31. PMID 15639117
Lukacs Z, Nieves Cobos P, Wenninger S, et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016;87(3):295-8. PMID 27170567
Van den Hout JM, Kamphoven JH, Winkel LP, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004;113(5):e448-57. PMID 15121988
van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010;362(15):1396-406. PMID 20393176
Wokke JH, Escolar DM, Pestronk A, et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 2008;38(4):1236-45. PMID 18816591
We believe that
MedLink Neurology Podcast is delighted to feature selected episodes from BrainWaves, courtesy of James E Siegler MD, its originator and host. BrainWaves is an academic audio podcast whose mission is to educate medical providers through clinical cases and topical reviews in neurology, medicine, and the humanities. Episodes originally aired from 2016 to 2021.
Originally released: October 17, 2019
College is a tough time for any kid. But it should also be exciting. Then to experience the freedoms of young adulthood, only later to face the horrifying reality of a progressive neurodegenerative condition...it's not something anyone should experience. In this week's continuation of the patient narrative series, Dr. Paul McIntosh (Duke) shares his life-changing story and his optimism about surviving a chronic neurologic illness.
Produced by James E Siegler with the help of Paul McIntosh. For more information about Pompe Disease, check out the resources provided by the United Pompe Foundation at unitedpompe.com. Music for our program this week was courtesy of Ars Sonor, Franz Danzi, Lee Rosevere, and Scott Holmes. Sound effects by Mike Koenig and Daniel Simion. BrainWaves' podcasts and online content are intended for medical education only and should not be used for clinical decision-making. Be sure to follow us on Twitter (now X) @brainwavesaudio for the latest updates to the podcast.
REFERENCES
Beltran Papsdorf TB, Howard JF Jr, Chahin N. Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency. Neurology 2014;82(9):e73-5. PMID 24590251
Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012;45(3):319-33. PMID 22173792
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, et al. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: a Spanish cohort. Neuromuscul Disord 2015;25(7):548-53. PMID 25998610
Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr 2004;144(5 Suppl):S35-43. PMID 15126982
Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68(2):99-109. PMID 17151339
Klinge L, Straub V, Neudorf U, et al. Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005;15(1):24-31. PMID 15639117
Lukacs Z, Nieves Cobos P, Wenninger S, et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016;87(3):295-8. PMID 27170567
Van den Hout JM, Kamphoven JH, Winkel LP, et al. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 2004;113(5):e448-57. PMID 15121988
van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010;362(15):1396-406. PMID 20393176
Wokke JH, Escolar DM, Pestronk A, et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 2008;38(4):1236-45. PMID 18816591
We believe that