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Familial Dyskinesia and Facial Myokymia

FDFM


Presentation

  • The critical region contained 323 variants, 5 of which were not present in 1 of the sequence databases.[ncbi.nlm.nih.gov]
  • Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments[books.google.com]
  • Sudhansu Chokroverty—a world-recognized expert in sleep medicine—presents the third edition of Sleep Disorders Medicine for the latest developments in this rapidly expanding specialty, with coverage of neuroscience and clinical application.[books.google.com]
  • Jankovic is the recipient of many other honors including the American Academy of Neurology (AAN) Movement Disorders Research Award, sponsored by the Parkinson’s Disease Foundation, the Guthrie Family Humanitarian Award, presented by the Huntington’s Disease[books.google.com]
  • Mitochondrial disorders such as LHON may present with dystonia.[neuroweb.us]
Movement Disorder
  • Mice deficient in Adcy5 develop a movement disorder that is worsened by stress. We conclude that FDFM likely results from a missense mutation in ADCY5.[ncbi.nlm.nih.gov]
  • Disorders, Institute of Neurology, University College London[books.google.com]
  • Our results provide further evidence of genetic heterogeneity in autosomal dominant movement disorders and suggest that a novel gene underlies this new condition.[ncbi.nlm.nih.gov]
  • Mutations in ADCY5 should be considered in patients with undiagnosed complex movement disorders even in the absence of a family history. 2014 American Neurological Association.[ncbi.nlm.nih.gov]
Brachydactyly
  • Gland Neoplasms Gnas adrenocortical carcinoma Gnas Albright's hereditary osteodystrophy Gnas Alzheimer's disease Gcg, Gnas Animal Mammary Neoplasms Adcy5 Anorexia Gcg autistic disorder Gcg B-Cell Chronic Lymphocytic Leukemia Gnas Birth Weight Adcy5 brachydactyly[rgd.mcw.edu]
  • , type D Sequencing of all coding exons of the gene - - 1 HOXD13 Brachydactyly, type E Sequencing of all coding exons of the gene - - 1 HOXD13 Brachydactyly-syndactyly syndrome Sequencing of all coding exons of the gene - - 1 HOXD13 Syndactyly, type V[cegat.de]
Arthritis
  • Scientific Contribution Home IRDiRC & Research Clinical Trials Funded by Members Clinical Trials Funded by Lysogene Clinical Trials Funded by the National Center for Advancing Translational Sciences Clinical Trials Funded by the National Institute of Arthritis[irdirc.org]
  • Dementia Sequencing of all coding exons of the gene - - 1.3 PSMB8 Autoinflammation, lipodystrophy, and dermatosis syndrome (Nakajo-Nishimura or CANDLE syndrome; PSMB8 gene) Sequencing of all coding exons of the gene - - 0.8 PSTPIP1 Pyogenic sterile arthritis[cegat.de]
Chorea
  • No other disorders primarily characterized by myokymia, dystonia, or chorea are known to map to this region.[ncbi.nlm.nih.gov]
  • We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13[ncbi.nlm.nih.gov]
  • G25.5 Other chorea Chorea NOS Excludes: chorea NOS with heart involvement ( I02.0 ) Huntington's chorea ( G10 ) rheumatic chorea ( I02.- ) Sydenham's chorea ( I02.- ) G25.6 Drug-induced tics and other tics of organic origin Use additional external cause[apps.who.int]
  • Benign Hereditary Chorea: Usually with Infancy-Onset Benign hereditary chorea (BHC) is a rare autosomal dominant disease that is characterized by nonprogressive chorea, with early onset in childhood and absence of dementia and caudate atrophy.[movementdisorders.org]
  • BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea.[foundationdystoniaresearch.org]
Apraxia
  • Global sequencing deficits in a multigenerational family with familial childhood apraxia of speech. Clinical Linguistics & Phonetics, 22(5), 226-234. DOI: 10.3109/02699206.2012.736011.[chs.asu.edu]
  • Georgescu D et al. (2008) Upper eyelid myectomy in blepharospasm with associated apraxia of lid opening. Am J Ophthalmol 145 : 541–547 27. Boghen D (1997) Apraxia of lid opening: a review. Neurology 48 : 1491–1494 28.[nature.com]
  • This is analogous to the motor blocks or the freezing phenomenon experienced by some, and the terms "apraxia of eyelid opening".[blepharospasm.org]
  • Stage II includes continued intellectual decline, myoclonus, focal seizures with secondary generalization, choreoathetosis, apraxia, and visual changes with optic atrophy, dysarthria, and tremors.[neuroweb.us]
  • Sequencing of all coding exons of the gene - - 0.3 APOA5 Hyperchylomicronemia, late-onset Sequencing of all coding exons of the gene - - 1.1 APP Alzheimer Dementia Sequencing of hotspots Deletion and duplication analysis - 2.3 APTX Ataxia with Oculomotor Apraxia[cegat.de]
Cognitive Deficit
  • This approach emphasizes the importance of looking at the other functional impacts of these manifestations (e.g. cognitive deficits secondary to depression, orthodopaedic ambulation issues).[books.google.com]
  • Cognitive deficits and psychiatric features appear to be less prominent compared to HD. Treatment is symptomatic.[movementdisorders.org]
Insomnia
  • Demonstrates how recent basic science advances affect clinical medicine through new chapters on Sleep Deprivation and Sleepiness; Sleep and Memory Consolidation; Neuroimaging in Sleep and Sleep Disorders; Nutrition and Sleep; Nature and Treatment of Insomnia[books.google.com]
  • They may also experience sleep disturbances or insomnia secondary to the spasm. Physical examination Spasm of the orbicularis oculi can be seen in addition to spasm of the other facial muscles on one side of the face.[eyewiki.aao.org]

Workup

  • However, traditional one-by-one genetic testing facilitating the diagnostic workup is increasingly replaced by simultaneous gene testing using next-generation multiple gene panels and whole exome/genome sequencing.[movementdisorders.org]

Treatment

  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]
  • In addition to summarizing basic science and important technological aspects of diagnosis and treatment, this edition presents new chapters—on sleep and memory consolidation, neuroimaging, and more—in a color layout that makes it easy to access the latest[books.google.com]
  • Diagnosis and treatment of Wilson disease: an update . Hepatology 2008 ; 47 : 2089 –2111. 2. Hughes AJ , Ben-Shlomo Y , Daniel SE , Lees AJ .[cambridge.org]
  • , outcomes, and response to treatment.[surgicalneurologyint.com]
  • Advances have, however, been made in the identification and treatment of these conditions, and most can be managed effectively with appropriate knowledge of the diagnostic signs and effective treatments.[nature.com]

Prognosis

  • Prevention - ADCY5-related dyskinesia Diagnosis - ADCY5-related dyskinesia Prognosis - ADCY5-related dyskinesia Not supplied. Treatment - ADCY5-related dyskinesia Resources - ADCY5-related dyskinesia[checkorphan.org]
  • Prognosis value of myoclonus status in comatose survivors of cardiac arrest . Ann Neurol 1994 ; 35 : 239 –243. 6. Caviness JN , Forsyth PA , Layton DD , McPhee TJ . The movement disorder of adult opsoclonus . Mov Disord 1995 ; 10 : 22 –27. 7.[cambridge.org]
  • Prognosis 80-85% of Patients improve with botulinum toxin 90% of patients improve with microvascular decompression. American Academy of Ophthalmology.[eyewiki.aao.org]
  • The prognosis is usually bad with survival rates less than a few years after onset.[neuroweb.us]
  • The events appear very frightening for carers but have a good prognosis. When reflex anoxic seizures are very frequent, atropine or cardiac pacing may be considered.[epilepsydiagnosis.org]

Etiology

  • Risk Factors Facial trauma Cranial nerve seven injury Bell’s Palsy Atherosclerosis Family History Pathophysiology The pathophysiology is not well understood and likely varies by etiology.[eyewiki.aao.org]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Jannetta PJ et al. (1977) Etiology and definitive microsurgical treatment of hemifacial spasm: operative techniques and results in 47 patients. J Neurosurg 47 : 321–328 62.[nature.com]
  • The presence of associated findings, however, may suggest a specific etiology.[blepharospasm.org]
  • The etiology of non-epileptic seizures is heterogeneous, with different predisposing, precipitating and promoting factors in different affected individuals.[epilepsydiagnosis.org]

Epidemiology

  • Relevant External Links for ADCY5 Genetic Association Database (GAD) ADCY5 Human Genome Epidemiology (HuGE) Navigator ADCY5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ADCY5 No data available for Genatlas for ADCY5 Gene Cloning and[genecards.org]
  • Defazio G et al. (2004) Epidemiology of primary dystonia. Lancet Neurol 3 : 673–678 7. Defazio G et al. (2007) Do primary adult-onset focal dystonias share aetiological factors? Brain 130 : 1183–1193 8.[nature.com]
  • Epidemiology Movement disorders are common neurologic problems, and epidemiological studies are available for some of them ( Table 1.3 ).[clinicalgate.com]
  • Epidemiology Rare disease (8-15 out of 100,000 people in the US) [1] More common in women than men ( 2x more common in women) Most common in middle-aged and older people (typical age of onset 50-60 years old) Etiology There are a number of known causes[eyewiki.aao.org]
  • […] advocacy organizations in the field of rare diseases Rare Disease Day 2018 was a success IRDiRC released its roadmap for 2018 Addressing challenges in the diagnosis and treatment of rare genetic diseases Spotlight on the second edition of “Rare Diseases Epidemiology[irdirc.org]
Sex distribution
Age distribution

Pathophysiology

  • Cruccu G et al. (1994) Pathophysiology of hemimasticatory spasm. J Neurol Neurosurg Psychiatry 57 : 43–50 81.[nature.com]
  • Risk Factors Facial trauma Cranial nerve seven injury Bell’s Palsy Atherosclerosis Family History Pathophysiology The pathophysiology is not well understood and likely varies by etiology.[eyewiki.aao.org]
  • The pathophysiology of tremor . Muscle Nerve 2001 ; 24 : 716 –735. 5. Wijdicks EFM , Parisi JE , Sharbrough FW . Prognosis value of myoclonus status in comatose survivors of cardiac arrest . Ann Neurol 1994 ; 35 : 239 –243. 6.[cambridge.org]
  • The presumed pathophysiologic mechanism of hemifacial spasm involves the generation of ortho- and antidromic impulses by a damaged area of the facial nerve.[blepharospasm.org]
  • The molecular pathophysiology is not fully understood.[movementdisorders.org]

Prevention

  • Others prevent production of adenylate cyclase 5. It is unclear how either type of mutation leads to the abnormal movements that occur in this disorder.[checkorphan.org]
  • Wearing dark glasses can reduce bright light triggers and prevent embarrassment due to the stares of onlookers. Voluntary manoeuvres, such as pulling the eyelid, pinching the neck, talking, yawning, humming and singing, help some sufferers.[audraeye.com]
  • Primary prevention None History Patients present with the complaint of inability to keep their eyelid open on the affected side. They describe an intermittent twitch or flutter of the eyelid followed by sustained and involuntary eyelid closure.[eyewiki.aao.org]
  • The retained awareness and history of triggers should prevent misdiagnosis as focal seizures .[epilepsydiagnosis.org]
  • Pyridoxine should be added to prevent anemia. The most worrisome side effect is the precipitant worsening in a patient's neurologic status after initiating penicillamine therapy.[neuroweb.us]

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