Discinesia asociada a <i>ADCY5</i> en la infancia: a propósito de una familia y revisión actualizada

Aguilera-Nieto, L; Ferrero-Turrión, J; Mora-Ramírez, M D; Medina, Rocío Calvo; Ruiz-García, César; Fernández, J.M. Ramos

doi:10.33588/rn.7102.2020154

Cited by 2 publications

(8 citation statements)

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“…37,40 Gait impairment and falls can be due to the hyperkinetic movements, spasticity and/or axial hypotonia. 5,19,[21][22][23]30,31,35,38,[44][45][46][47][48] There is usually no cerebellar or proprioceptive ataxia. 1,13 Mild dysmetria and dysdiadochokinesia 1,41,49 associated with uncoordinated or unstable gait have been anecdotally reported.…”

Section: Adcy5-rmd Clinical Features and Phenomenologymentioning

confidence: 99%

“…11,27 There are also reports of delayed speech development possibly related to facial dyskinesia. 19,38 ADCY5-RMD is considered a non-progressive disorder, with inter-individual variations in evolution with aging. Some reports describe an improvement in frequency and severity of the paroxysmal episodes in the 30s, while others describe a worsening in frequency with age, with episodes becoming nearly constant by the age of 30.…”

Section: Natural Historymentioning

confidence: 99%

“…Dystonia is also variable in ADCY5‐RMD and may affect the trunk, 30,31 neck, 32–34 limbs 7,32,35,36 and/or extremities 21 (including writer's cramp) 37 . Less frequently patients present with orolingual dystonia, 30 blepharospasm 34 or Meige's syndrome 38,39 . Likewise, patients can have action or rest tremor 30 which can affect the head, 1,11,30 the limbs 7,27 and the hands 30,40 .…”

Section: Adcy5‐rmdmentioning

confidence: 99%

“…Gait impairment and falls can be due to the hyperkinetic movements, spasticity and/or axial hypotonia 5,19,21–23,30,31,35,38,44–48 . There is usually no cerebellar or proprioceptive ataxia 1,13 .…”

Section: Adcy5‐rmdmentioning

confidence: 99%

“…There can be a delay in motor development, with reports of unsupported sitting occurring at 15–18 months and walking with the assistance of a walker at 30 months–3 years 11,27 . There are also reports of delayed speech development possibly related to facial dyskinesia 19,38 …”

Section: Adcy5‐rmdmentioning

confidence: 99%

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Scoping Review onADCY5‐Related Movement Disorders

Menon,

Nilles,

Silveira‐Moriyama

et al. 2023

Movement Disord Clin Pract

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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.

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