Myotonic dystrophy type 1 as a major risk factor for severe COVID-19?
نویسندگان
چکیده
منابع مشابه
Myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) is a distal myopathy and a multisystem disease occurring with an incidence of 1/8000, as a result of a CTG trinucleotide repeat expansion in the serinetreonine-protein kinase (DMPK) coding gene on chromosome 19q13.3. In DM1 patients the length of the CTG expansion ranges from 50 to 4000. Disease severity correlates with repeat length and the phenomenon of genetic...
متن کاملPlasma microRNAs as biomarkers for myotonic dystrophy type 1
Myotonic dystrophy type 1 (DM1) lacks non-invasive and easy to measure biomarkers, still largely relying on semi-quantitative tests for diagnostic and prognostic purposes. Muscle biopsies provide valuable data, but their use is limited by their invasiveness. microRNA (miRNAs) are small non-coding RNAs regulating gene expression that are also present in biological fluids and may serve as disease...
متن کاملAlopecia as a prominent feature of myotonic dystrophy type 1.
phy type 1 (MD1) but it is usually restricted to the fronto-temporal areas (frontal baldness).1-3 Alopecia also of other areas of the scalp has not been reported as a dominant feature of the disease. The patient is a 54yo Caucasian female with a history of myotonia of all toes bilaterally since childhood, recurrent falls since at least 15a, disturbed fine motor skills since at least 15a, and pr...
متن کاملOverweight Is an Independent Risk Factor for Reduced Lung Volumes in Myotonic Dystrophy Type 1.
BACKGROUND In this large observational study population of 105 myotonic dystrophy type 1 (DM1) patients, we investigate whether bodyweight is a contributor of total lung capacity (TLC) independent of the impaired inspiratory muscle strength. METHODS Body composition was assessed using the combination of body mass index (BMI) and fat-free mass index. Pulmonary function tests and respiratory mu...
متن کاملMyotonic Dystrophy Type 1 Presenting as Male Infertility
Myotonic dystrophy 1 (DM1) is a multi-system disorder characterized by endocrine defects that include testicular and tubular atrophy, oligospermia and azoospermia, and increased follicle-stimulating hormone levels. We describe a rare case of DM1 presenting as infertility in a 29-year-old man.
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ژورنال
عنوان ژورنال: Acta Neurologica Belgica
سال: 2020
ISSN: 0300-9009,2240-2993
DOI: 10.1007/s13760-020-01514-z