Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

M. Pane; S. Messina; G. Vasco; A. R. Foley; L. Morandi; E. Pegoraro; T. Mongini; A. D'Amico; F. Bianco; M. E. Lombardo; R. Scalise; C. Bruno; A. Berardinelli; A. Pini; I. Moroni; M. Mora; A. Toscano; M. Moggio; G. Comi; F. M. Santorelli; E. Bertini; F. Muntoni; E. Mercuri

doi:10.1016/j.nmd.2012.05.006

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

M. Pane, S. Messina, G. Vasco, A. R. Foley, L. Morandi, E. Pegoraro, T. Mongini, A. D'Amico, F. Bianco, M. E. Lombardo, R. Scalise, C. Bruno, A. Berardinelli, A. Pini, I. Moroni, M. Mora, A. Toscano, M. Moggio, G. Comi, F. M. SantorelliE. Bertini, F. Muntoni, E. Mercuri

Research output: Contribution to journal › Article › peer-review

Abstract

The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies (CMD) with reduced glycosylation of alphadystroglycan (α-DG). Thirteen of the 115 patients included in the study died between the age of 1. month and 20. years. The age at last follow up of the surviving 102 ranged between 1. year and 68. years (median: 9.3. years). Cardiac involvement was found in 7 of the 115 (6%), 5 with dilated cardiomyopathy, 1 cardiac conductions defects and 1 mitral regurgitation. Respiratory function was impaired in 14 (12%). Ten of the 14 required non invasive nocturnal respiratory support, while the other four required invasive ventilation. Cardiac or respiratory involvement was found in patients with mutations in . FKRP, . POMT1, . POMT2. All of the patients in whom mutation in POMGnT1 were identified had normal cardiac and respiratory function.

Original language	English
Pages (from-to)	685-689
Number of pages	5
Journal	Neuromuscular Disorders
Volume	22
Issue number	8
DOIs	https://doi.org/10.1016/j.nmd.2012.05.006
Publication status	Published - Aug 2012

Keywords

Alpha dystroglycan
Congenital muscular dystrophy
Heart
Respiratory

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Genetics(clinical)
Neurology

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Pane, M., Messina, S., Vasco, G., Foley, A. R., Morandi, L., Pegoraro, E., Mongini, T., D'Amico, A., Bianco, F., Lombardo, M. E., Scalise, R., Bruno, C., Berardinelli, A., Pini, A., Moroni, I., Mora, M., Toscano, A., Moggio, M., Comi, G., ... Mercuri, E. (2012). Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscular Disorders, 22(8), 685-689. https://doi.org/10.1016/j.nmd.2012.05.006

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. / Pane, M.; Messina, S.; Vasco, G.; Foley, A. R.; Morandi, L.; Pegoraro, E.; Mongini, T.; D'Amico, A.; Bianco, F.; Lombardo, M. E.; Scalise, R.; Bruno, C.; Berardinelli, A.; Pini, A.; Moroni, I.; Mora, M.; Toscano, A.; Moggio, M.; Comi, G.; Santorelli, F. M.; Bertini, E.; Muntoni, F.; Mercuri, E.

In: Neuromuscular Disorders, Vol. 22, No. 8, 08.2012, p. 685-689.

Research output: Contribution to journal › Article › peer-review

Pane, M, Messina, S, Vasco, G, Foley, AR, Morandi, L, Pegoraro, E, Mongini, T, D'Amico, A, Bianco, F, Lombardo, ME, Scalise, R, Bruno, C , Berardinelli, A , Pini, A , Moroni, I , Mora, M, Toscano, A, Moggio, M, Comi, G , Santorelli, FM , Bertini, E, Muntoni, F & Mercuri, E 2012, 'Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency', Neuromuscular Disorders, vol. 22, no. 8, pp. 685-689. https://doi.org/10.1016/j.nmd.2012.05.006

Pane, M. ; Messina, S. ; Vasco, G. ; Foley, A. R. ; Morandi, L. ; Pegoraro, E. ; Mongini, T. ; D'Amico, A. ; Bianco, F. ; Lombardo, M. E. ; Scalise, R. ; Bruno, C. ; Berardinelli, A. ; Pini, A. ; Moroni, I. ; Mora, M. ; Toscano, A. ; Moggio, M. ; Comi, G. ; Santorelli, F. M. ; Bertini, E. ; Muntoni, F. ; Mercuri, E. / Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. In: Neuromuscular Disorders. 2012 ; Vol. 22, No. 8. pp. 685-689.

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