RESUMEN
The authors report two families with a myopathy phenotype affecting only women, marked by asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a mutation in a stop codon in exon 9 of the myotubularin gene, and the other had a splice site mutation in exon 13. Both families had manifesting and nonmanifesting carriers. Skewed X-inactivation appeared to explain the clinical manifestations in only one of the two families.
Asunto(s)
Huesos/anomalías , Diafragma/fisiopatología , Enfermedades Musculares/complicaciones , Enfermedades Musculares/genética , Mutación/genética , Proteínas Tirosina Fosfatasas/genética , Adulto , Preescolar , Análisis Mutacional de ADN , Diafragma/patología , Femenino , Lateralidad Funcional/genética , Predisposición Genética a la Enfermedad/genética , Pruebas Genéticas , Heterocigoto , Humanos , Recién Nacido , Patrón de Herencia/genética , Masculino , Persona de Mediana Edad , Debilidad Muscular/genética , Debilidad Muscular/patología , Debilidad Muscular/fisiopatología , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Músculo Esquelético/fisiopatología , Enfermedades Musculares/fisiopatología , Linaje , Fenotipo , Proteínas Tirosina Fosfatasas no Receptoras , Inactivación del Cromosoma X/genéticaRESUMEN
OBJECTIVE: To determine the effectiveness of steroids, acyclovir, and surgical facial nerve decompression in Bell's palsy. METHODS: The authors identified articles by searching MEDLINE and selected those that prospectively compared outcomes in patients treated with steroids, acyclovir, or surgery with patients not receiving these modalities. The authors graded the quality of each study (class I to IV) using a standard classification-of-evidence scheme. They compared the proportion of patients recovering facial function in the treated group to the proportion of patients recovering facial function in the control group. RESULTS: The authors identified no adequately powered class I studies for any treatment modality. The pooled results of two class I and two class II studies showed significantly better facial outcomes in steroid-treated patients compared with non-steroid-treated patients (relative rate good outcome 1.16, 95% CI 1.05 to 1.29). One class II study demonstrated a significant benefit from acyclovir in combination with prednisone compared with prednisone alone (relative rate good outcome 1.22, 95% CI 1.02 to 1.45). All studies describing outcomes in patients treated with facial nerve decompression were graded as class IV. CONCLUSION: For patients with Bell's palsy, a benefit from steroids, acyclovir, or facial nerve decompression has not been definitively established. However, available evidence suggests that steroids are probably effective and acyclovir (combined with prednisone) is possibly effective in improving facial functional outcomes. There is insufficient evidence to make recommendations regarding surgical facial nerve decompression for Bell's palsy. Well-designed studies of the effectiveness of treatments for Bell's palsy are still needed.