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The Autosomal Dominant FacioScapulo-Limb Type 2 (The Same Disease as the FSHD1 or the Facioscapuloperoneal Muscular Dystrophy with 4q35 Chromosomal Deletion). Some Peculiarities of the Pattern of Muscle Involvement

Valery M Kazakov, Dmitry I Rudenko, Vladislav O Kolynin, Tima R Stuchevskaya, Alexander A Skoromets
2018 SM Musculoskeletal Disorders  

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Patients and Methods 59 patients from 21 autosomal dominant FSLD2 families were examined. Among 59 patients, 33 (55, 9%) (12 men and 21 women; 24-86 years old) were symptomatic and 26 (44.06%) (9 men and 17 women; 6-30 years old) were presymptomatic (Pr). Among 33 symptomatic patients 25 (75.5%) had a Severe Degree of the Disease (SDD), 7 (21.2%) -a moderate (MoDD) and 3 (9%) -a mild (MDD) degree of the disease. We can observe the dynamic pattern of the muscle affection (the myogenic phenotype)
more » ... and the disease severity in 24 FSLD2 patients who were re-examined
doi:10.36876/smmd.1024 fatcat:oho355qcwrcr7g4zsos47u35le
Citation

Valery M Kazakov, Dmitry I Rudenko, Vladislav O Kolynin, Tima R Stuchevskaya, Alexander A Skoromets. "The Autosomal Dominant FacioScapulo-Limb Type 2 (The Same Disease as the FSHD1 or the Facioscapuloperoneal Muscular Dystrophy with 4q35 Chromosomal Deletion). Some Peculiarities of the Pattern of Muscle Involvement." SM Musculoskeletal Disorders 3.1 (2018) 1-11