Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by the degeneration of motor neurons and progressive muscle weakness. It is caused by homozygous deletions in the survival motor neuron gene on chromosome 5. SMA shows a wide range of clinical severity, with SMA type I patients often dying before 2 years of age, whereas type III patients experience less severe clinical manifestations and can have a normal life span. Here, we describe the design, setup and utilisation of the TREAT-NMD national SMA patient registries characterised by a small, but fully standardised set of registry items and by genetic confirmation in all patients. We analyse a selection of clinical items from the SMA registries in order to provide a snapshot of the clinical data stratified by SMA subtype, and compare these results with published recommendations on standards of care. Our study included 5,068 SMA patients in 25 countries. A total of 615 patients were ventilated, either invasively (178) or non-invasively (437), 439 received tube feeding and 455 had had scoliosis surgery. Some of these interventions were not available to patients in all countries, but differences were also noted among high-income countries with comparable wealth and health care systems. This study provides the basis for further research, such as quality of life in ventilated SMA patients, and will inform clinical trial planning.
El Síndrome de Deleción 22q11.2 o Síndrome de DiGeorge es una entidad genética caracterizada por la triada clínica de anomalías cardiacas conotruncales, hipoplasia tímica e hipocalcemia. No obstante, el fenotipo 22q11.2 es bastante variable, incluyendo anomalías físicas, metabólicas, endocrinológicas y a nivel conductual y del desarrollo. Incluye asociación piscopatológica con distintos síndromes psiquiátricos. Describimos el caso de un varón de 16 años con criterios diagnósticos de Trastorno del Espectro Autista enmarcado en un Síndrome de Deleción 22q11.2.
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