scholarly journals Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue

Brain ◽  
2009 ◽  
Vol 132 (1) ◽  
pp. 147-155 ◽  
Author(s):  
D. Hicks ◽  
A. K. Lampe ◽  
S. H. Laval ◽  
V. Allamand ◽  
C. Jimenez-Mallebrera ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Cyclosporine A ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy

scholarly journals Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

2011 ◽  
Vol 2011 ◽  
pp. 1-10 ◽  
Author(s):  
Luciano Merlini ◽  
Patrizia Sabatelli ◽  
Annarita Armaroli ◽  
Saverio Gnudi ◽  
Alessia Angelin ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Cyclosporine A ◽  
Congenital Muscular Dystrophy ◽  
Respiratory Muscles ◽  
Primary Outcome Measure ◽  
Term Treatment ◽  
Long Term Results ◽  
Long Term Treatment ◽  
Ullrich Congenital Muscular Dystrophy

Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5–9, received 3–5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs. The megalimbs score showed significant improvement (P=0.01) in 5 of the 6 patients. Motor function did not change. Respiratory function deteriorated in all. CsA treatment corrected mitochondrial dysfunction, increased muscle regeneration, and decreased the number of apoptotic nuclei. Results from this study demonstrate that long-term treatment with CsA ameliorates performance in the limbs, but not in the respiratory muscles of UCMD patients, and that it is well tolerated. These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised.

P4.50 Mitochondrial therapy with Cyclosporine A in patients with Ullrich Congenital Muscular Dystrophy

2011 ◽  
Vol 21 (9-10) ◽  
pp. 719
Author(s):  
L. Merlini ◽  
A. Armaroli ◽  
P. Sabatelli ◽  
S. Gnudi ◽  
M.E. Michelini ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Cyclosporine A ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study

2017 ◽  
Vol 32 (14) ◽  
pp. 1099-1103
Author(s):  
Biswaroop Chakrabarty ◽  
M. C. Sharma ◽  
Sheffali Gulati ◽  
Chitra Sarkar
Keyword(s):  
Muscular Dystrophy ◽  
Observational Study ◽  
Skin Biopsy ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy

C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy

2007 ◽  
Vol 17 (9-10) ◽  
pp. 845
Author(s):  
P. Richard ◽  
C. Ledeuil ◽  
C. Gartioux ◽  
L. Torrieri ◽  
L. Briñas ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy
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