Myotonic dystrophy type 1 – a multiorgan disorder
Tidsskrift for Den norske legeforeningMyotonic dystrophy type 1 is an autosomal dominant, inherited multiorgan disorder that can affect people of all ages. It is the most prevalent inherited muscular disease in adults. Late diagnosis points to limited knowledge among the medical community that symptoms other than typical muscular symptoms can dominate. The condition often worsens with each
Kristin, Ørstavik +8 more
openaire +2 more sources
Dystrophia myotonia type 1 with excessive daytime sleepiness: one case report
Chinese Journal of Contemporary Neurology and Neurosurgery, 2020 DOI：10.3969/j.issn.1672⁃6731.2020.07 ...
Rui-rui ZHANG +4 more
doaj
Clinical molecular genetics in the UK c.1975-c.2000 [PDF]
, 2014 seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core
BioengineeringThe temporomandibular joint (TMJ) is essential for chewing and speaking functions, as well as for making facial expressions. However, this joint can be affected by disorders, known as temporomandibular disorders (TMDs), induced by complex causes that ...
Daniele Della Posta +7 more
doaj +1 more source
Dentofacial characteristics of growing patients with Duchenne muscular dystrophy: a morphological study [PDF]
, 2017 Occlusal traits and craniofacial morphology were studied in growing patients with Duchenne muscular dystrophy (DMD). Sixteen patients from 6 to 20 years of age were examined and compared with 16 healthy male individuals matched according to age.
Botteron, Sébastien +2 more
core
The expansion of 300 CTG repeats in myotonic dystrophy transgenic mice does not induce sensory or motor neuropathy [PDF]
, 2018 Summary: Although many studies have been carried out to verify the involvement of the peripheral nervous system (PNS) in dystrophia myotonica (DM1) patients, the results remain controversial. The generation of DM1 transgenic mice displaying the human DM1
Barakat-Walter, I. +5 more
core
Analyzing Pain Medication Use and Adherence in Patients with Myotonic Dystrophy and Facioscapulohumeral Dystrophy [PDF]
, 2015 Objectives: Myotonic dystrophy (DM) and facioscapulohumeral dystrophy (FSHD) are two of the most common muscular dystrophies in adults. It has been reported that patients with these two disorders may suffer from pain and inadequate pain management.
Fitzgerald, Bryan, Parkhill, Amy L.
core +1 more source
Virchow-Robin spaces : an anatomic variant or a pathologic sign? [PDF]
, 2009 Virchow-Robin spaces surround blood vessels. Their walls are formed by prolongations of the pia mater and they have no communication with the subarachnoid space. VRS are often seen as well-delineated foci of cerebrospinal fluid signal on MR images.
core
Cost-effectiveness of DNA-diagnosis for four monogenic diseases [PDF]
, 1994 In this paper the costs and benefits associated with DNA-diagnosis of individuals who are at risk of a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a ...
Hout, B.A. (Ben) van +2 more
core
Muscle weakness after rest in myotonic disorders; an electrophysiological study.
Journal of Neurology Neurosurgery & Psychiatry, 1974 Brown Jc
semanticscholar +2 more sources