Fibrodysplasia ossificans progressiva as a form of pseudodystonia

We describe potential mechanisms that can be responsible for the good outcome of BoNT/A therapy observed in our patient.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research

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Intrathecal baclofen (ITB) is a well-recognised treatment option in the management of generalised spasticity and dystonia. Typically it is considered in children who have failed to respond to, or have not tolerated, appropriate enteral medications. Placement of a pump would be contraindicated in children who could not accommodate a pump due to size, or those who have a local or systemic infection. There are a number of relative contraindications which must be considered. An intrathecal baclofen test dose is usually advised and is particularly useful in screening for hypersensitivity.
Source: Paediatrics and Child Health - Category: Pediatrics Authors: Tags: Symposium: Cerebral palsy Source Type: research
Conclusions: External and internal browpexy surgery afforded adequate and similar elevations of the central and lateral brow, which were significantly different from those in the standard blepharoplasty group during long-term follow-up.RESUMO Objetivo: Avaliar a compara ção, a longo prazo, da eficácia quantitativa da sobrancelha interna e externa em combinação com a blefaroplastia da pálpebra superior com base nas posições lateral e central da sobrancelha. Métodos: Este estudo retrospectivo avaliou as cirurgias interna e externa da braquiterapia com blef aropla...
Source: Arquivos Brasileiros de Oftalmologia - Category: Opthalmology Source Type: research
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
No abstract available
Source: Journal of Clinical Neuromuscular Disease - Category: Neurology Tags: Letters to the Editor 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
CONCLUSIONS: Our method of simultaneously performing LAL, SAL, and thread lifting, while adding BoNTA, filler injections, and BFP removal as needed, was capable of producing consistent and reliable aesthetic outcomes for the lower face. PMID: 32453935 [PubMed - as supplied by publisher]
Source: Archives of Plastic Surgery - Category: Cosmetic Surgery Tags: Arch Plast Surg 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
I'm starting my 4th year and have always kept my grades up incase I wanted to specialize or do a GPR/AEGD. Im in the top 20-25% of my class and know I definitely want to go into general. Applications are already open so I wanted to make a decision ASAP. I will have 500k+ loans upon graduation, and would like to learn invisalign, implants, botox, and veneers etc. --> would it be more beneficial for me to go through the residency route? I've had a hard time coming to terms with taking a... Starting 4th year - need advice! Residency, private practice?
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Dental Residents and Practicing Dentists Source Type: forums
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
The purpose of this study was to (1) investigate the percent change in communicative participation in individuals with spasmodic dysphonia (SD) pre- and post-BOTOX ® treatment; and (2) to investigate if percent change in communicative participation is predicted by change in self-esteem, coping, and/or Voice-Related Quality of Life (V-RQOL) pre- and post-BOTOX® treatment.
Source: Journal of Voice - Category: ENT & OMF Authors: Source Type: research
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