Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años / Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years
Rev. neurol. (Ed. impr.)
; 41(3): 145-150, 1 ago., 2005. tab
Article
in Es
| IBECS
| ID: ibc-040662
Responsible library:
ES1.1
Localization: ES1.1 - BNCS
RESUMEN
Introducción. Las enfermedades neuromusculares hereditarias son trastornos heterogéneos en edad de inicio, clínica y gravedad. Muchas son graves, discapacitantes y con gran impacto personal, familiar y social, y pueden limitar el pronóstico vital. Se producen continuos avances diagnósticos que exigen una permanente actualización. Pacientes y métodos. Revisión de las enfermedades neuromusculares hereditarias de la base de datos de Neuropediatría del Hospital Miguel Servet de Zaragoza de mayo de 1990 a octubre de 2004. Resultados. De 7.805 pacientes de la base de datos figuran 123 casos (el 1,5% del total) con enfermedades neuromusculares hereditarias 71 varones y 52 niñas. Son 35 neuropatías hereditarias sensitivomotoras, 17 distrofinopatías, 10 distrofias miotónicas, 10 atrofias musculares espinales, cuatro distrofias congénitas deficientes en merosina, otras cuatro distrofias musculares, tres miopatías mitocondriales, tres miastenias, dos neuropatías familiares con insensibilidad al dolor, dos ataxias de Friedreich, una neuropatía familiar con parálisis sensibles a la presión, un síndrome de Walker-Warburg, cinco polineuropatías asociadas a leucodistrofia y otros 25 casos sin tipificar. Los estudios genéticos han sido diagnósticos en 36 casos (29,2%) nueve distrofias miotónicas, ocho distrofinopatías, ocho atrofias musculares espinales, cuatro neuropatías hereditarias sensitivomotoras desmielinizantes, dos ataxias de Friedreich, dos distrofias musculares de cintura, una miastenia congénita, una enfermedad de McArdle y un síndrome de Kearns-Sayre. Conclusiones. La genética establece diagnósticos que previamente sólo pueden ser de presunción, y permite evitar biopsias musculares, lo que es satisfactorio especialmente en niños. Es necesaria la actualización en los estudios inmunohistoquímicos y guardar sistemáticamente muestras biológicas en los casos sin diagnóstico (AU)
ABSTRACT
Introduction. Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. Patients and methods. We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. Results. Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreichs ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%) nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreichs ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdles disease and one case of Kearns-Sayre syndrome. Conclusions. Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached (AU)
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Collection:
06-national
/
ES
Database:
IBECS
Main subject:
Genetic Diseases, Inborn
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Child
/
Humans
Language:
Es
Journal:
Rev. neurol. (Ed. impr.)
Year:
2005
Document type:
Article