RESUMEN
BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset myopathy characterized by ptosis, dysphagia, and progressive proximal limb muscle weakness. The disease is produced by a short expansion of the (GCN)n triplet in the PABPN1 gene. The size of expansion has been correlated to the disease onset and severity. We report the clinical features of a large cohort of OPMD patients harboring the (GCN)15 allele from the Canary Islands. METHODS: A retrospective observational study was performed analyzing the clinical, demographic, and genetic data of 123 OPMD patients. Clinical data from this cohort were compared with clinical data collected in a large European study including 139 OPMD patients. RESULTS: A total of 113 patients (94.2%) carried the (GCN)15 expanded PABN1 allele. Age of symptoms' onset was 45.1 years. The most frequent symptom at onset was ptosis (85.2%) followed by dysphagia (12%). The severity of the disease was milder in the Canary cohort compared to European patients as limb weakness (35.1% vs. 50.4%), the proportion of patients that require assistance for walking or use a wheelchair (9.3% vs. 27.4%), and needed of surgery because of severe dysphagia (4.6% vs. 22.8%) was higher in the European cohort. CONCLUSIONS: Nearly 95% of patients with OPMD from the Canary Islands harbored the (GCN)15 expanded allele supporting a potential founder effect. Disease progression seemed to be milder in the (GCN)15 OPMD Canary cohort than in other cohorts with shorter expansions suggesting that other factors, apart from the expansion size, could be involved in the progression of the disease.
Asunto(s)
Trastornos de Deglución , Distrofia Muscular Oculofaríngea , Estudios de Cohortes , Trastornos de Deglución/genética , Humanos , Persona de Mediana Edad , Debilidad Muscular/etiología , Distrofia Muscular Oculofaríngea/diagnóstico , Distrofia Muscular Oculofaríngea/genética , Proteína I de Unión a Poli(A)/genética , EspañaRESUMEN
Introducción: el plexo braquial puede verse afectado por patología neoplásica tanto primaria como secundaria. Los tumores primarios del plexo braquial son entidades poco frecuentes, aunque algunos, como el tumor maligno de la vaina del nervio periférico pueden tener un comportamiento agresivo. Caso clínico: se presenta una mujer de 31 años con disestesias y debilidad progresiva en el miembro superior izquierdo. El estudio neurofisiológico mostró afectación del plexo braquial izquierdo. En la resonancia magnética se observó una masa de tejido blando que invadía el plexo braquial. El estudio histológico fue compatible con un tumor maligno de la vaina del nervio periférico. Conclusiones: el tumor maligno de la vaina del nervio periférico es un tumor altamente agresivo que puede aparecer en pacientes sin datos clínicos de neurofibromatosis tipo 1. Debe mantenerse un elevado nivel de sospecha con el objetivo de no retrasar el diagnóstico para así poder realizar un tratamiento lo más conservador posible.
Introduction. Malignant peripheral nerve sheath tumor (MPNST) are sarcomas that are rarely located in the upper limb. Clinical case. We present a 31- year-old woman with progressive dysesthesia and weakness of the left upper limb. The neurophysiological study showed damage in the left brachial plexus. A soft tissue mass that was invading the plexus was observed in the magnetic resonance image. The anatomopathological study was compatible with MPNST diagnosis. Conclusions. Intrinsic tumors of the brachial plexus are uncommon. A MPNST is an extremely aggressive mesenchymal tumor that is seldom rooted in the brachial plexus.