Results 251 to 260 of about 56,560 (289)

SCAPULOTHORACIC FUSION FOR FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

The Journal of Bone and Joint Surgery-American Volume, 2005
Facioscapulohumeral muscular dystrophy causes winging of the scapula and weakness and discomfort of the shoulder. Surgical stabilization of the scapula to the posterior part of the chest wall permits shoulder abduction and flexion by the deltoid muscle.
Mohammad, Diab, Basil T, Darras, Frederic, Shapiro   +2 more
openaire   +2 more sources

Sleep quality in Facioscapulohumeral muscular dystrophy

Journal of the Neurological Sciences, 2007
To evaluate the subjective sleep quality, the prevalence of daytime sleepiness and the risk of sleep-related upper airways obstruction in patients with genetically proven Facioscapulohumeral muscular dystrophy (FSHD). FSHD is an autosomal dominant myopathy, characterized by an early involvement of facial and scapular muscles with eventual spreading to ...
Della Marca, Giacomo, Frusciante, Roberto, Vollono, Catello, Dittoni, Serena, Galluzzi, G, Buccarella, C, Modoni, Anna, Mazza, Salvatore, Tonali ,Pa, Ricci, Enzo   +9 more
openaire   +4 more sources

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy

Cardiology, 2005
Cardiac involvement (CI) in form of myocardial thickening in a patient with genetically confirmed facioscapulohumeral muscular dystrophy (FSHMD) has not been reported. The patient is a 50-year-old male with a tandem repeat size of 17 and 14 kb in the D4Z4 locus on chromosome 4q35. The clinical cardiologic investigation was normal.
Josef, Finsterer, Claudia, Stöllberger, Gerhard, Meng   +2 more
openaire   +2 more sources

Facioscapulohumeral muscular dystrophy: the road to targeted therapies

Nature Reviews Neurology, 2023
Mara S. Tihaya, K. Mul, J. Balog, Jessica C. de Greef, S. Tapscott, R. Tawil, J. Statland, S. M. van der Maarel   +7 more
semanticscholar   +1 more source

Facioscapulohumeral muscular dystrophy (FSHD)

Neurology, 1994
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder with a characteristic distribution of weakness and variable severity. Prospective, longitudinal data on FSHD are essential for the design of therapeutic trials and in assessment of genetic heterogeneity.
R. Tawil, M. P. McDermott, J. R. Mendell, J. Kissel, R. C. Griggs   +4 more
openaire   +1 more source

Duchenne muscular dystrophy

Nature Reviews Disease Primers, 2021
Dongsheng Duan, Nathalie Goemans, Shin’ichi Takeda   +2 more
exaly  

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

Nature Medicine, 2022
Kevin A Strauss, Michelle A Farrar Mbbs
exaly  

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Nature Medicine, 2022
Kevin A Strauss, Michelle A Farrar Mbbs, Francesco Muntoni   +2 more
exaly  

[Infantile facioscapulohumeral muscular dystrophy].

Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1992
The authors describe a 16-year-old patient suffering from facial scapulohumeral myopathy. The given case is regarded as sporadic. The disease was characterized by an early debut and rapid progression of neuromuscular disorders. Marked myasthenia and muscular atrophy of the face, shoulders, thighs, as well as contractures in the knee joints, hands and ...
L O, Badalian, P A, Temin, K Iu, Mukhin, N V, Bulaeva, N N, Zavadenko, M Iu, Nikanorova, R V, Shnaĭdman, V L, Lysov   +7 more
openaire   +1 more source

Facioscapulohumeral Muscular Dystrophy

2023
Johanna Hamel, Rabi Tawil
openaire   +1 more source