Takotsubo syndrome in Duchenne muscular dystrophy may be triggered by epilepsy
Publication date: Available online 20 September 2019Source: Journal of Cardiology CasesAuthor(s): Josef Finsterer
Publication date: 2019Source: Epilepsy &Behavior Case Reports, Volume 11Author(s): Alejandro Viloria-Alebesque, Elena Bellosta-Diago, Sonia Santos-Lasaosa, José Ángel Mauri-Llerda
Publication date: Available online 21 March 2019Source: Epilepsy &Behavior Case ReportsAuthor(s): Alejandro Viloria-Alebesque, Elena Bellosta-Diago, Sonia Santos-Lasaosa, José Ángel Mauri-Llerda
Conclusions: The present study described a "tripe trouble" with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling. PMID: 30203790 [PubMed - in process]
GOSR2 gene is a Golgi vesicle transport gene which encodes for the Golgi SNAP receptor complex member 2 protein. This protein mediates transport between the medial and trans Golgi compartments. Homozygous mutations in GOSR2 gene (variant c.403G>T, p.G144W) have been associated with progressive myoclonic epilepsy. Patients reported had mildly elevated creatine kinase but normal muscle biopsy and no symptoms of myopathy. One reported case with compound heterozygous GOSR2 mutations (previously described mutation c.430G>T and a novel splice site mutation c.336 + 1G>A) presented with congenital muscular dystrophy.
Fukuyama congenital muscular dystrophy (FCMD), an autosomal recessive disorder characterized by the combination of severe muscular dystrophy and dysgenesis of the eye and central nervous system which causes intellectual deficits and epilepsy, was first reported by Fukuyama et al. in 1960 [1, 2]. FCMD is the second most prevalent of the Japanese childhood-onset muscular dystrophies after Duchenne muscular dystrophy (DMD), but it is rarely reported outside of Japan. The annual incidence was previously reported to be 2.9 per 100,000 live births [3, 4].
In this report, we also provide a detailed review of previously reported cases with B3GALNT2-related dystroglycanopathy and compare them to our reported child. In addition, we study the genotype–phenotype correlation in these cases. [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents | Abstract | Full text
Conclusion: The clinical characteristics of pediatric rhabdomyolysis differ from those observed in adult patients. Children with underlying diseases are more vulnerable to rhabdomyolysis-induced AKI. AKI more likely develops in the presence of a high degree of albuminuria. PMID: 29628970 [PubMed]
by Michael D. Ehlers, MD, PhD Dr. Ehlers is with Biogen in Cambridge, Massachusetts. Innov Clin Neurosci. 2018;15(3–4):15–16 Funding: No funding was received for the preparation of this article. Disclosures: Dr. Ehlers is an employee and shareholder at Biogen Inc. in Cambridge, Massachusetts. Prominent and expensive failures in Alzheimer’s disease therapies have led to a contagious belief system in some parts of the biopharma industry that neuroscience is just too hard, too risky, and too uncertain. But, might this belief system itself be a residual bias of the past? Close inspection reveals all the signs...
ConclusionsIn conclusion, we show that mutations inB3GALNT2 can give rise to a novel MDDG syndrome presentation, characterized by ID associated variably with seizure, but without any apparent muscular involvement. Importantly,B3GALNT2 activity does not fully correlate with the severity of the phenotype as assessed by the complementation assay.
A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese patient. Intern Med. 2017 Dec 08;: Authors: Kubota A, Ishiura H, Mitsui J, Sakuishi K, Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J Abstract A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused not only by primarily LAMA2 mutations, but also secondarily by dystroglycanopathy. Although it can be molecularly diagnosed based on a genetic analysis, this method is labor-intensive because of its huge genome s...