BrainWaves: A Neurology Podcast

#150 Patient narrative part 2: It started with back pain…

BrainWaves: A Neurology Podcast

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 neurological 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 @brainwavesaudio for the latest updates to the podcast.

REFERENCES

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  2. Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ and Van der Ploeg AT. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics. 2004;113:e448-57.
  3. Klinge L, Straub V, Neudorf U, Schaper J, Bosbach T, Gorlinger K, Wallot M, Richards S and Voit T. 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;15:24-31.
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  5. Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, Florence JM, Mayhew J, Skrinar A, Corzo D and Laforet P. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve. 2008;38:1236-45.
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  7. Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT and Disease ACCoL-oP. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45:319-33.
  8. Beltran Papsdorf TB, Howard JF, Jr. and Chahin N. Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency. Neurology. 2014;82:e73-5.
  9. Gutierrez-Rivas E, Bautista J, Vilchez JJ, Muelas N, Diaz-Manera J, Illa I, Martinez-Arroyo A, Olive M, Sanz I, Arpa J, Fernandez-Torron R, Lopez de Munain A, Jimenez L, Solera J and Lukacs Z. 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;25:548-53.
  10. Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Muller-Felber W and Schoser B. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology. 2016;87:295-8.

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📆 2019-09-05 11:00 / 00:27:06