13 results found
Article
Myotonic dystrophy
Myotonic dystrophy refers to a group of progressive multi-system genetic disorders that affect primarily muscle function, but can also affect other organs such as the heart, eye and endocrine system.
There are currently two clinically and molecularly defined forms of myotonic dystrophy:
myoto...
Article
Myotonic dystrophy type 1
Myotonic dystrophy type 1, also known as Steinert disease, is a rare autosomal dominant multisystem disorder.
Clinical presentation
In adults, it is mainly characterized by muscle weakness, myotonia, cardiac conduction defect and posterior subcapsular cataracts 1. In neonates, it is characteri...
Article
Myotonic dystrophy type 2
Myotonic dystrophy type 2, also known as proximal myotonic myopathy, is a rare autosomal dominant muscular disorder.
Clinical presentation
Myotonia and muscular dysfunction are the most common features of the disease. Other findings such as cardiac conduction defect, posterior subcapsular cata...
Case
Myotonic dystrophy - type 1
Published
11 Feb 2019
97% complete
X-ray
Case
Myotonic dystrophy - type 1
Published
29 Jun 2018
77% complete
CT
Annotated image
Article
Muscular dystrophy
Muscular dystrophies refer to a broad group of conditions that result in increasing weakening and breakdown of skeletal musculature over time.
These include
Duchenne muscular dystrophy (considered most common)
Becker muscular dystrophy
facioscapulohumeral muscular dystrophy
congenital musc...
Article
Pulmonary hypoplasia
Pulmonary hypoplasia refers to underdevelopment of one or both lungs. This can be rapidly fatal at birth or mild, escaping detection for decades. It is most often secondary to congenital abnormalities that either restrict intrathoracic space or alter pulmonary fluid dynamics.
Epidemiology
Pulm...
Article
Pectus excavatum
Pectus excavatum, also known as funnel chest or trichterbrust 13, is a congenital chest wall deformity characterized by concave depression of the sternum, resulting in cosmetic and radiographic alterations.
Epidemiology
It is the most common chest wall deformity, accounting for approximately 9...
Article
Hypotelorism
Hypotelorism refers to an abnormal decrease in distance between any two organs although some authors use the term synonymously with orbital hypotelorism meaning an abnormal decrease in the distance between the two eyes (the eyes appear too close together). The article mainly focuses on the latte...
Article
Creatine kinase
Creatine kinase (CK), also known as creatine phosphokinase (CPK), is a key enzyme, for energy production in mitochondria and muscle tissues. It is important as a diagnostic assay in clinical practice, primarily because inflamed/injured muscle releases creatine kinase into the circulation 1.
Phy...
Article
Napkin ring sign (disambiguation)
The napkin ring sign may refer to either of the following imaging findings:
napkin ring sign (colon): colonic stenosis such as due to colon cancer
napkin ring sign (coronary): coronary artery vulnerable plaque
A clinical napkin ring sign of myotonia (e.g. in myotonic dystrophy) also exists, w...
Article
Bilateral temporal lobe T2 hyperintensity
Bilateral temporal lobe T2 hyperintensity refers to hyperintense signal involving the temporal lobes on T2 weighted and FLAIR imaging. It is a common finding on brain MRI and a wide range of differentials should be considered 1.
Causes include:
neurodegenerative disease
frontotemporal dementi...
Article
Cardiomyopathy (WHO/ISFC 1995 classification)
Cardiomyopathy classification separates the various cardiomyopathies into several subtypes. Cardiomyopathy is defined as a "disease of the myocardium with associated cardiac dysfunction".
It was initially classified according to the 1995 World Health Organizatiοn / International Society and Fed...
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