Symptoma

Paroxysmal Kinesigenic Dyskinesia

PKC

A 42-year-old woman and her 13-year-old daughter both presented with episodic curling of their hand and arm. These events were triggered by sudden movements and would last several seconds. [ncbi.nlm.nih.gov]

  • Vietnamese

    METHODS: Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia. [ncbi.nlm.nih.gov]

    Methods Sanger sequencing was used to analyze all four PRRT2 exons for sequence variants in 13 probands (9 Caucasian, 1 Caucasian-Thai, 1 Vietnamese and 2 African-American) with some form of paroxysmal dyskinesia. [bmcneurol.biomedcentral.com]

  • Pathologist

    First, the majority of patients show an excellent response to carbamazepine or phenytoin and some show significant improvement with low-dose carbamazepine. 15 Second, neurologists, paediatricians, and pathologists can explain to the family the aetiology [hkmj.org]

  • Paranoid Ideation

    ideation, and psychoticism; P 0.000 for all) and significantly lower (worse) scores of five domains in WHOQoL-100 (physical domain, psychological domain, independence domain, social relationship domain, and general quality of life; P 0.000 for all). [ncbi.nlm.nih.gov]

    ideation, psychoticism; P 0.000, for all). [cjcnn.org]

  • Incontinence

    There was no history of preceding aura, confusion following the episodes, bowel and bladder incontinence, or tongue biting. Past history, birth history, and family history were not significant. Physical examination was normal. [neurologyindia.com]

    There was no incontinence. The patient had normal intelligence. Physical examination, biochemical tests, computed tomography of the brain, and electroencephalography were normal. [hkmj.org]

  • Abnormal Involuntary Movement

    We report on seven children who developed abnormal involuntary movements as early as 1.5 years after unremarkable term births. The paroxysmal episodes of abnormal movements were typically precipitated by sudden, voluntary movements, or a startle. [ncbi.nlm.nih.gov]

    involuntary movement that is episodic or intermittent, with sudden onset, and the attacks are induced by sudden movement. [annalsofian.org]

    PxD is a class of heterogeneous motor disorders characterized by abnormal involuntary movement with no alteration to consciousness. It is usually under-diagnosed if not delayed-diagnosed, as the patients are normal between episodes. [ruralneuropractice.com]

    Indeed, deletions at 16p12-p11 have recently been detected in four patients with sporadic microdeletion syndrome consisting of developmental disabilities, 83 but none of the four patients had ever shown epileptic seizures or abnormal involuntary movements [doi.org]

  • Limb Weakness

    The proband suffered choreoathetosis attacks triggered by sudden movements, and lower-limb weakness and stiffness that worsened in cold weather. [ncbi.nlm.nih.gov]

  • Alteration of Consciousness

    The attacks of involuntary movements were all short lasting, and could involve extremities, trunk, neck, or face without alteration of consciousness. [ncbi.nlm.nih.gov]

    PxD is a class of heterogeneous motor disorders characterized by abnormal involuntary movement with no alteration to consciousness. It is usually under-diagnosed if not delayed-diagnosed, as the patients are normal between episodes. [ruralneuropractice.com]

  • Lip Smacking

    The younger daughter presented at 3 months old with a brief lip smacking, limb twitching, and up-rolling eyeball; the attack lasted about 2 minutes. Both daughters were prescribed phenobarbitone. [hkmj.org]

Workup for his symptoms including blood counts, electrolytes, calcium, thyroid functions, vasculitic workup, magnetic resonance imaging (MRI) brain, and electroencephalogram (EEG) were all within normal limits. [annalsofian.org]

We describe the case of a young female patient who was admitted for diagnostic workup: epileptic seizures versus psychogenic movement disorders. [e-jmd.org]

The apparent benign nature of the disorder, as well as treatment options with antiepileptic drugs, was discussed with the parents, and most chose no pharmacologic treatment. [ncbi.nlm.nih.gov]

The correct diagnosis has implications for treatment and prognosis, and the diagnostic scheme may allow better focus in the search for the PKD gene(s). [ncbi.nlm.nih.gov]

The correct diagnosis has implications for treatment and prognosis, and the diagnostic scheme may allow better focus in the search for the PKD gene(s). Received April 1, 2004. Accepted September 1, 2004. [neurology.org]

Prognosis ICCA has a good outcome. Without treatment, dyskinetic attacks tend to disappear during adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]

Typically, patients receive antiepileptic medications, and improvement of symptoms is usually associated with a good prognosis. If symptoms do not improve with antiepileptic medication(s), the prognosis is not favorable. [encyclopedia.com]

I can't predict your prognosis. Even the doctor's don't know that. I know all this is frustrating. bes of luck. [dailystrength.org]

CONCLUSIONS: PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile convulsions and migraine. [ncbi.nlm.nih.gov]

In 1995, Dermirkiran and Jankovic [10] associated a wide range of etiologies to PNKD, for example, autoimmune, vascular, traumatic, infective, and endocrine disorder. [ruralneuropractice.com]

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]

Etiology The genetic loci of ICCA syndrome have been described on chromosomes 16p11.2-q12.1, 16q13-q22.1 and 3q29-29. [orpha.net]

Summary Epidemiology This disorder is rare but the exact prevalence is unknown. Clinical description Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. [orpha.net]

Jianfeng Xu Fudan–Van Andel Research Institute (VARI) Center for Genetic Epidemiology, School of Life Science, Fudan University, Shanghai, China. [nature.com]

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

Common clinical features, epidemiological studies, shared therapeutic strategies, and familial co-inheritance all argue in favour of close relationships between various epileptic syndromes and other paroxysmal disorders of the brain, 35 such as migraine [doi.org]

This article reviews the literature related to the presentation, epidemiology, diagnosis, and treatment of Parry-Romberg syndrome and linear scleroderma en coupe de sabre with focus on the significant correlation with neurologic disease, particularly [pesquisa.bvsalud.org]

Little is known of the pathophysiology of PKD, although an ion channel abnormality is thought likely. We assessed a number of electrophysiological parameters in 11 patients with idiopathic PKD, a proportion of them on and off treatment. [ncbi.nlm.nih.gov]

CONCLUSIONS: This finding may represent that the operation of SI is extended to the post-movement period, perhaps as a compensatory mechanism for preventing unwanted movement in surrounding muscles. [ncbi.nlm.nih.gov]

Each driver was effective in preventing self-learning when driving PKCi expression, but not without PKCi ( Fig. 3B ). [peerj.com]

Mutagenesis Feature key Position(s) Description Actions Graphical view Length Mutagenesis i 214 I A: Prevents binding with num-1 (isoform a and isoform c). 1 Mutagenesis i 216 N A: Prevents binding with num-1 (isoform a and isoform c). 1 Mutagenesis i [uniprot.org]

In this state, the pseudosubstrate sequence of the regulatory domain of PKC interacts with the Catalytic domain and prevents access of the substrate to the catalytic site. [qiagen.com]