The muscular dystrophies are important inherited disorders of muscle. They are characterised by their sheer diversity, their multifaceted presentations, and their complicated diagnostic pathways. Some muscular dystrophies are relatively easy to recognise and diagnose. These include Duchenne’s muscular dystrophy (DMD), facio-scapulo-humeral muscular dystrophy (FSHD), myotonic dystrophy, and Emery Dreifuss muscular dystrophy (EDMD). In contrast, limb girdle muscular […]
At first, it seemed like a single drop, but it is quickly turning into a trickle. The first inkling was a study of >1,700 people with motor neurone disease (MND) which was published in the journal Neurology titled Depression in amyotrophic lateral sclerosis. The authors found that depression is a very frequent diagnosis shortly before people are diagnosed with MND.
Surely a coincidence, I thought. A rogue finding, or even an understandable response to illness. My excuses were however debunked by another paper published soon after in the Annals of Neurology. Titled Psychiatric disorders prior to amyotrophic lateral sclerosis, the study found that depression may precede the diagnosis of MND by more than 5 years. The authors also report a high frequency of other psychiatric conditions preceding the diagnosis of MND, such as anxiety and psychosis.
And just off the press is this report from Nature Communications titled Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. What do we make of this? Is this just the tip of the iceberg? Surely more studies are needed before any firm conclusions. Perhaps this may lead to some early biomarker that enables neurologists to stop the process of progression to full blown MND. Perhaps.
Of all the disorders neurologists have to deal with, few have as many subtypes as spinocerebellar ataxia (SCA). Most neurologist are familiar with the more common SCAs-types 1,2,3,6, and 7. When pushed, SCA17 will pop into the mind…just because of its similarity to Huntington’s disease (HD). At the last count, there are 43 different forms of […]
Take this case report from Nutrients titled gluten psychosis: confirmation of a new clinical entity. The article comes with some good references that suggest it will do no harm to check anti-gliadin antibodies in people with unexplained psychosis. I do wonder how one case report would confirm an entity such as gluten psychosis, but there you are.
The second item is another case report published in Journal of Neurology titled severe, persistent visual impairment associated with occipital calcification and coeliac disease. The subject of the case report has long-standing coeliac disease and visual impairment. Her brain MRI scan showed calcifications in the visual area, evidence the authors claim, of celiac disease causing brain calcifications …..and thereby causing the patients visual loss. Is it just a case of correlation rather than causation? But there you are.
Epilepsy is a big problem for Neurology. It is a common, and often life-long, disease. Epilepsy is like the mythical hydra in its diverse manifestations, and in its duplicitous evasion of treatment. The pillars of epilepsy treatment are the anti-epileptic drugs (AEDs). It is however a very tricky business to wield these very powerful tools. For example, one epilepsy medication […]
