Dataset Information

Scoping Review on ADCY5-Related Movement Disorders.

ABSTRACT:

Background

Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onset disease resulting from pathogenic variants in the ADCY5 gene. The clinical features, diagnostic options, natural history, and treatments for this disease are poorly characterized and have never been established through a structured approach.

Objective

This scoping review attempts to summarize all available clinical literature on ADCY5-RMD.

Methods

Eighty-seven articles were selected for inclusion in this scoping review. The majority of articles identified were case reports or case series.

Results

These articles demonstrate that patients with ADCY5-RMD suffer from permanent and/ or paroxysmal hyperkinetic movements. The paroxysmal episodes can be worsened by environmental triggers, in particular the sleep-wake transition phase in the early morning. Occurrence of nocturnal paroxysmal dyskinesias and perioral twitches are highly suggestive of the diagnosis when present. In the majority of patients intellectual capacity is preserved. ADCY5-RMD is considered a non-progressive disorder, with inter-individual variations in evolution with aging. Somatic mosaicism, mode of inheritance and the location of the mutation within the protein can influence phenotype.

Conclusions

The current evidence for therapeutic options for ADCY5-RMD is limited: caffeine, benzodiazepines and deep brain stimulation have been consistently reported to be useful in case reports and case series.

SUBMITTER: Menon PJ

PROVIDER: S-EPMC10354615 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

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Publications

Scoping Review on ADCY5-Related Movement Disorders.

Menon Poornima Jayadev PJ Nilles Christelle C Silveira-Moriyama Laura L Yuan Ruiyi R de Gusmao Claudio M CM Münchau Alexander A Carecchio Miryam M Grossman Steve S Grossman Gay G Méneret Aurélie A Roze Emmanuel E Pringsheim Tamara T

Movement disorders clinical practice 20230606 7

<h4>Background</h4>Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onset disease resulting from pathogenic variants in the <i>ADCY5</i> gene. The clinical features, diagnostic options, natural history, and treatments for this disease are poorly characterized and have never been established through a structured approach.<h4>Objective</h4>This scoping review attempts to summarize all available clinical literature on ADCY5-RMD.<h4>Methods</h4>Eighty-seven artic ...[more]

PMID: 37476318

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Project description:Introduction/backgroundThe depth and breadth of research on dry needling (DN) has not been evaluated specifically for symptomatic spine related disorders (SRD) from myofascial trigger points (TrP), disc, nerve and articular structures not due to serious pathologies. Current literature appears to support DN for treatment of TrP. Goals of this review include identifying research published on DN treatment for SRD, sites of treatment and outcomes studied.MethodsA scoping review was conducted following Levac et al.'s five part methodological framework to determine the current state of the literature regarding DN for patients with SRD.ResultsInitial and secondary search strategies yielded 55 studies in the cervical (C) region (71.43%) and 22 in the thoracolumbar-pelvic (TLP) region (28.57%). Most were randomized controlled trials (60% in C, 45.45% in TLP) and clinical trials (18.18% in C, 22.78% in TLP). The most commonly treated condition was TrP for both the C and TLP regions. In the C region, DN was provided to 23 different muscles, with the trapezius as treatment site in 41.88% of studies. DN was applied to 31 different structures in the TLP region. In the C region, there was one treatment session in 23 studies (41.82%) and 2-6 treatments in 25 (45.45%%). For the TLP region, one DN treatment was provided in 8 of the 22 total studies (36.36%) and 2-6 in 9 (40.9%). The majority of experimental designs had DN as the sole intervention. For both C and TLP regions, visual analogue scale, pressure pain threshold and range of motion were the most common outcomes.ConclusionFor SRD, DN was primarily applied to myofascial structures for pain or TrP diagnoses. Many outcomes were improved regardless of diagnosis or treatment parameters. Most studies applied just one treatment which may not reflect common clinical practice. Further research is warranted to determine optimal treatment duration and frequency. Most studies looked at DN as the sole intervention. It is unclear whether DN alone or in addition to other treatment procedures would provide superior outcomes. Functional outcome tools best suited to tracking the outcomes of DN for SRD should be explored.

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Dataset Information

Scoping Review on ADCY5-Related Movement Disorders.

Background

Objective

Methods

Results

Conclusions

Publications

Scoping Review on ADCY5-Related Movement Disorders.

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