Reply to J. Dulski and J. Slawek's “Fibrodysplasia ossificans progressiva as a form of pseudodystonia”

We thank Dr Dulski and Dr Slawek for sharing their fascinating case of pseudodystonia due to fibrodysplasia ossificans progressiva (FOP), a connective tissue disorder characterised by heterotopic ossification in muscles, tendons and ligaments. The patient presented with abnormal neck postures suggestive of cervical dystonia and further developed abnormal trunk and limb postures. Considering imaging evidence of inflammation in the sternocleidomastoid muscles, the abnormal postures were characterised within the spectrum of pseudodystonia rather than dystonia.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research

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Conclusion: Our results do not provide evidence for a role of MRI of the cervical spine in the routine work-up of patients with cervical dystonia in the absence of specific clinical signs or symptoms.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Mutations inTUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N). We have developed a novel knock-in mouse model harboring heterozygous (Tubb4aD249N/+) and the homozygous (Tubb4aD249N/D249N) mutation that recapitulate the progressive motor dysfunction with tremor, dystonia and ataxia seen in H-ABC.Tubb4aD249N/D249N mice have myelination deficits along with dramatic decrease in mature oligodendrocytes and their progenitor cells. Additionally, a signific...
Source: eLife - Category: Biomedical Science Tags: Neuroscience Source Type: research
Botulinum toxin has been considered as the treatment of choice for patients with cervical dystonia (CD) [1]. Although its effect is usually helpful, botulinum toxin can cause serious complications [1]. Thus, development of a new treatment strategy for patients with CD is required to overcome the limitations of the current treatment. Based on pathophysiology of dystonia including loss of inhibition and aberrant plasticity within the brain [2], non-invasive brain stimulation (NIBS) techniques such as repetitive transcranial magnetic stimulation (rTMS) have been applied to patients with CD to normalize disrupted function in c...
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disease characterized by heterotopic ossification (HO) in soft tissues and caused by a mutation of the ACVR1A/ALK2 gene. Activin-A is a key...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Abstract Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
ConclusionsOur paper contributes to further delineate a complex phenotype associated with BSCL2 mutation, underlining how seipin has a central and partially still unknown role that goes beyond adipose tissue metabolism, with a prominent involvement in central nervous system pathology.
Source: Neurological Sciences - Category: Neurology Source Type: research
Publication date: 19 May 2020Source: Cell Reports, Volume 31, Issue 7Author(s): Giuseppe Sciamanna, Giulia Ponterio, Valentina Vanni, Daniela Laricchiuta, Giuseppina Martella, Paola Bonsi, Maria Meringolo, Annalisa Tassone, Nicola Biagio Mercuri, Antonio Pisani
Source: Cell Reports - Category: Cytology Source Type: research
In case you were ever stupid enough to follow Trump’s lead you would have already injected ultraviolets in your eyeballs by now to save you from Covid and maybe bathed in Domestos or sulfuric acid or both! Anyway, his latest bullshine claim is that he’s been taking the antimalarial drug hydroxychloroquine to keep Covid at bay. Well, for starters there is no evidence that this drug acts as a prophylactic against infection with SARS CoV-2 or indeed any pathogen other than the causative agent of otherwise drug-resistant malaria. It’s primary use is in treating lupus. There was some testing done weeks ago to...
Source: David Bradley Sciencebase - Songs, Snaps, Science - Category: Science Authors: Tags: Health and Medicine Source Type: blogs
Publication date: Available online 17 May 2020Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral RadiologyAuthor(s): Asha Sude, Donald R. Nixdorf
Source: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology - Category: ENT & OMF Source Type: research
Paroxysmal movement disorders represent a group of episodic involuntary movements, and some of them are distinguished clinically by unique precipitating factors. The effect of sex hormone on movement disorder has been recognized in recent years [1], but the association of paroxysmal movement disorders with sex hormone has rarely been studied. Na+/K  + -ATPase α3 subunit (ATP1A3) gene mutations (OMIM 182350) are associated with at least 3 distinct but overlapping neurological syndromes such as: rapid-onset dystonia parkinsonism, alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes...
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research
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