Transient neonatal myasthenia is a rare complication of maternal myasthenia gravis. Around 10-15% of children born to mothers with anti-acetylcholine receptor (AChR) antibodies, and less frequently anti-muscle-specific kinase (MuSK). Symptoms are usually apparent from the 3rd day of life, and in almost all cases …
Continue reading «Miastenia congénita y trastorno por inactivación de AChR fetal.»
CDC diagnostic algorithm and geographic areas affected by Zika virus outbreaks.
Most inborn errors of metabolism are autosomal recessive diseases. However, there are some exceptions. For a complete list of all X-linked diseases, you can consult OMIM.
Cholesterol, HDL, LDL, triglycerides: Tangier disease. Abetalipoproteinemia. Smith-Lemli-Opitz, Cerebrotendinous Xanthomatosis and other disorders of cholesterol synthesis. Alpha-fetoprotein: Ataxia-telangiectasia, Ataxia with oculomotor apraxia type 1 and type 2. Uric acid: Lesch-Nyhan. MCV: X-linked alpha-thalassemia mental retardation syndrome. Ferritin. Neuroferritinopathies. TSH, FT4, FT3. Allan-Herndon-Dudley. Benign hereditary chorea. Peripheral blood smear: Acanthocytes: Neuroacanthocytosis. …
Continue reading «Enfermedades raras neurológicas diagnosticables por medios sencillos.»
This is an online calculator to determine whether a specific intragenic deletion is a candidate for exon-skipping therapy.
Massive exome sequencing, as the most cost-efficient strategy in the genetic diagnosis of monogenetic Mendelian diseases, has a limitation imposed by its own design: it does not include the sequencing of intronic regions. It is already possible to carry out massive sequencing of the entire genome, but nevertheless, bioinformatics technologies and scientific accumulation…
https://pubs.rsna.org/doi/full/10.1148/rg.2020200032
