We report two cases with diagnosis of progressive ossifying fibrodysplasia (FOP) at the “Eugenio Espejo” Specialty Hospital. The FOP is a rare autosomal dominant disease. In most of the patients is due to a mutation in families not affected previously. It’s characterized by progressive ossification of connective tissue, aponeurosis, fascia, ligaments, tendons and skeletal muscle. The early diagnosis improves the prognosis and the quality of life.
autosomal dominant
Caracterización Clínico-Epidemiológica del Temblor Esencial en Familias de Holguín y Matanzas, Cuba.
Essential tremor (ET) is a bilateral mostly simmetric disorder, usually postural but kinetic and rest tremor can be present, it involves the arms and hands. A tranversal study was made to get an epidemiological, functional and fenomenological characterization of ET. Patients with clinical criteria of ET were selected from movement disorders clinic from two cuban provinces; the Fahn, Tolosa and Marín functional disability scale was applied to the sample. A total of 105 patients were evaluated, 64.7% female, 40.0% over 60 years, 80.9% were white, in 36.1% tremor began between 21 and 40 years, superior limbs were affected in 90.4%, 85.9% showed a beginning age anticipation, 87.7% were from Holguín, just 8 sporadic cases; in 53.8% associated diseases were found, an autosomal dominant inheritance was evident. Functions included in the scale’s part B showed a moderate disability (25-49%) and those which belong to part C had low disability (1-24%).
Conclusions. Most of the sample was from Holguín. Female, whites and older than 60 years were predominant, tremor mostly began between 21 and 40 years, superior limbs were the most affected body part, dominant autosomal inheritance was predominant, with anticipation in begining age. Association with some other diseases was frequent, many patients showed functional disability.
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Palabras clave: autosómico dominante,
desórdenes del movimiento,
herencia,
incapacidad funcional,
Temblor esencial,
