RESUMEN
The paper concerns a family in which father and sibs (two brothers and a sister) suffered from rapid-progressing myodystrophy. Clinically, the disease was marked by a debut in the pubertal period (at 12 to 13 years), derangement of the muscles of the limb girdles, proximal parts of the legs and arms, and distal parts of the legs. The given case was also characterized by the impairment of the cervical and facial muscles as well as by associated neuromuscular lesions and neurosensory hypoacusis. The case described supports the clinical pleomorphism of the facial scapulohumeral form of Landouzy-Dejerine myopathy.
Asunto(s)
Sordera/complicaciones , Distrofias Musculares/complicaciones , Adolescente , Adulto , Brazo , Niño , Sordera/congénito , Sordera/genética , Electromiografía , Músculos Faciales , Femenino , Humanos , Pierna , Masculino , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética , Linaje , Escápula , Factores de TiempoRESUMEN
Thirty-two patients with primary forms of progressive muscular dystrophies (PMD) and denervational amyotrophies were examined. The basal blood levels of somatotrophic hormone (STH) were significantly decreased in the majority of PMD forms. The insulin test showed quantitatively different types of reactions of STH in denervational amyotrophies versus primary myodystrophies.
Asunto(s)
Hormona del Crecimiento/metabolismo , Insulina , Atrofia Muscular/fisiopatología , Distrofias Musculares/fisiopatología , Adolescente , Adulto , Diagnóstico Diferencial , Hormona del Crecimiento/sangre , Humanos , Masculino , Persona de Mediana Edad , Distrofias Musculares/genética , Adenohipófisis/metabolismo , SíndromeRESUMEN
A combined study of the blood content of catecholamines (C) and of their urinary excretion in 42 patients with primary forms of myodystrophies and denervated amyotrophies allowed adequate identification of the features of the sympathoadrenal system functioning under conditions of the myodystrophic process. The study revealed changes in C levels. The primary forms of progressive muscular dystrophies (PMD) were associated with increased blood levels of adrenalin (A) while denervated amyotrophies were related to elevated concentrations of noradrenalin (NA). A statistically significant increase in A excretion with urine was found in Duchenne's PMD and in Kugelberg-Welander's spinal amyotrophy, i. e. the disorders with the most malignant course among all the groups studied. NA concentrations were lowered in all forms of PMD with the exception of Charcot-Marie's neural amyotrophy.