The critical region contained 323 variants, 5 of which were not present in 1 of the sequence databases. [ncbi.nlm.nih.gov]

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]

Do our patients present an “essential tremor variant”?3 Some features are not in favour of such a hypothesis. [jnnp.bmj.com]

• Urticaria

  Expressed in both normal skin and in urticaria pigmentosa lesions. [molsoft.com]

• Psychomotor Retardation

  Niemann-Pick disease type C (NPC): This autosomal recessive disorder is almost invariably characterized by two major features: psychomotor retardation and supranuclear downgaze paresis. [neuroweb.us]

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]

[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.com]

Cranial dystonia Medical Surgical Hemifacial spasm Medical Surgical Botulinum toxin injections Pharmacologic features Method of treatment Results of treatment Clinical Features and Course Blepharospasm, the most frequent feature of cranial dystonia, [blepharospasm.ca]

Gabapentin in the treatment of hemifacial spasm. Acta Neurol Scand 2001 ; 104 : 110 –12. 32 Bandini F, Mazzella L. Gabapentin as treatment for hemifacial spasm. Eur Neurol 1999 ; 42 : 49 –51. 33 Patel J, Naritoku DK. [academic.oup.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

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]

There are several historical case series reporting successful treatment of Sydenham's chorea by inducing fever. [12] [13] Prognosis [ edit ] Fifty percent of patients with acute Sydenham's chorea spontaneously recover after two to six months whilst mild [en.wikipedia.org]

The prognosis is usually bad with survival rates less than a few years after onset. [neuroweb.us]

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]

The etiology and pathologic substrate are unknown. [neupsykey.com]

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]

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]

D. (2002) Taxonomy and epidemiology of spinal cord injury pain. In: Yezierski, R.P. and Burchiel, K. (eds.) [shiga-med.ac.jp]

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]

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]

Pathophysiologic Features » Cranial dystonia The precise cause of cranial dystonia is not known. [blepharospasm.ca]

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]

Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly. [molsoft.com]

The retained awareness and history of triggers should prevent misdiagnosis as focal seizures. [epilepsydiagnosis.org]