[Infantile facioscapulohumeral muscular dystrophy].

Autor: Badalian LO, Temin PA, Mukhin KIu, Bulaeva NV, Zavadenko NN, Nikanorova MIu, Shnaĭdman RV, Lysov VL
Jazyk: ruština
Zdroj: Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952) [Zh Nevropatol Psikhiatr Im S S Korsakova] 1992; Vol. 92 (3), pp. 28-30.
Abstrakt: 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 feet were noted. By 15 years the patient demonstrated a noticeable progress of motor disorders: she was unable to stand up from the chair, experienced difficulties in walking along the ward, and had a waddle gait. The given symptom-complex corresponds with the infantile variety of facial scapulohumeral myodystrophy.
Databáze: MEDLINE