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Pregled bibliografske jedinice broj: 459927

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

Schara, U.; Barišić, Nina; Deschauer, M.; Lindberg, C.; Straub, V.; Strigl-Pill, N.; Wendt, M.; Abicht, A.; Müller, J.S.; Lochmüller, H.
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations // Neuromuscular disorders, 19 (2009), 12; 828-832 doi:10.1016/j.nmd.2009.09.008 (međunarodna recenzija, članak, znanstveni)

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Naslov
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

Autori
Schara, U. ; Barišić, Nina ; Deschauer, M. ; Lindberg, C. ; Straub, V. ; Strigl-Pill, N. ; Wendt, M. ; Abicht, A. ; Müller, J.S. ; Lochmüller, H.

Izvornik
Neuromuscular disorders (0960-8966) 19 (2009), 12; 828-832

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
ephedrine therapy; congenityl myashenic syndrome; DOK 7 mutations

Sažetak
In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and prospective cohort study in eight European patients manifesting from birth to 12 years. Five patients showed limb-girdle and facial weakness, three a floppy infant syndrome with bulbar symptoms and/or respiratory distress. Ephedrine was started with 25 mg/day and slowly increased to 75-100 mg/day. Within weeks after starting therapy an improvement was observed in all patients and clinical follow-up disclosed positive effects more pronounced on proximal muscle weakness and strength using MRC scale. Effects on facial weakness were less pronounced. Vital capacity measurements and repetitive stimulation tests did not improve in the same way as clinical symptoms did. These investigations are appropriate to confirm the diagnosis in case of pathological results, but they might not be appropriate means to monitor patients under ephedrine therapy.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Projekti:
108-1081870-1886 - Uloga subkortikalnih struktura u epileptogenezi u razvojnoj dobi (Barišić, Nina, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Nina Barišić (autor)

Poveznice na cjeloviti tekst rada:

Pristup cjelovitom tekstu rada doi www.sciencedirect.com www.sciencedirect.com

Citiraj ovu publikaciju:

Schara, U.; Barišić, Nina; Deschauer, M.; Lindberg, C.; Straub, V.; Strigl-Pill, N.; Wendt, M.; Abicht, A.; Müller, J.S.; Lochmüller, H.
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations // Neuromuscular disorders, 19 (2009), 12; 828-832 doi:10.1016/j.nmd.2009.09.008 (međunarodna recenzija, članak, znanstveni)
Schara, U., Barišić, N., Deschauer, M., Lindberg, C., Straub, V., Strigl-Pill, N., Wendt, M., Abicht, A., Müller, J. & Lochmüller, H. (2009) Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations. Neuromuscular disorders, 19 (12), 828-832 doi:10.1016/j.nmd.2009.09.008.
@article{article, author = {Schara, U. and Bari\v{s}i\'{c}, Nina and Deschauer, M. and Lindberg, C. and Straub, V. and Strigl-Pill, N. and Wendt, M. and Abicht, A. and M\"{u}ller, J.S. and Lochm\"{u}ller, H.}, year = {2009}, pages = {828-832}, DOI = {10.1016/j.nmd.2009.09.008}, keywords = {ephedrine therapy, congenityl myashenic syndrome, DOK 7 mutations}, journal = {Neuromuscular disorders}, doi = {10.1016/j.nmd.2009.09.008}, volume = {19}, number = {12}, issn = {0960-8966}, title = {Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations}, keyword = {ephedrine therapy, congenityl myashenic syndrome, DOK 7 mutations} }
@article{article, author = {Schara, U. and Bari\v{s}i\'{c}, Nina and Deschauer, M. and Lindberg, C. and Straub, V. and Strigl-Pill, N. and Wendt, M. and Abicht, A. and M\"{u}ller, J.S. and Lochm\"{u}ller, H.}, year = {2009}, pages = {828-832}, DOI = {10.1016/j.nmd.2009.09.008}, keywords = {ephedrine therapy, congenityl myashenic syndrome, DOK 7 mutations}, journal = {Neuromuscular disorders}, doi = {10.1016/j.nmd.2009.09.008}, volume = {19}, number = {12}, issn = {0960-8966}, title = {Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations}, keyword = {ephedrine therapy, congenityl myashenic syndrome, DOK 7 mutations} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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