Symptoma

Progressive Myoclonic Epilepsy Type 3

EPM3

In addition, in this case, we reported a special case of LINCL as one form of the most fatal PME, to present some special EEG characteristics in details. [journals.lww.com]

[…] deficiency Progressive myoclonus epilepsy type 3 Prevalence: 1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Childhood ICD-10: G40.3 OMIM: 611726 UMLS: C2673257 MeSH: - GARD: 2167 MedDRA: - The documents contained in this web site are presented [orpha.net]

Abstract: The authors present three patients from a consanguineous family afflicted with novel recessive myoclonic epilepsy characterized by very early onset and a steadily progressive course. [tandfonline.com]

Type 3 (juvenile or subacute neuro-pathic) Gaucher’s disease, presented here as progressive myoclonus epilepsy, occurs more rarely than type 1 (adult or nonneuropathic) or type 2 (infantile or neuropathic) Gaucher’s disease. [jkna.org]

Sunami, Yoko; Sugaya, Keizo; Chihara, Norio; Goto, Yu-ichi; Matsubara, Shiro // Neurological Sciences;Oct2011, Vol. 32 Issue 5, p861 We present a Japanese family suffering from mitochondrial encephalomyopathy associated with a T-to-C transition at mitochondrial [connection.ebscohost.com]

  • Coarse Facial Features

     Clinical features include coarse facial features, corneal clouding, hepatomegaly, skeletal dysplasia, and learning disability in addition to the myoclonus. 36.  EEG background shows low-voltage fast activity, but slowing can be seen in patients with [slideshare.net]

  • Short Arm

     The gene associated with this disease, CLN3, is located on the short arm of chromosome 16. 20. [slideshare.net]

  • Truncal Ataxia

    […] finger movement Causes * Dysarthria * Mental retardation * Truncal ataxia. [checkorphan.org]

    Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges. [malacards.org]

    The patient presented truncal ataxia, tremor in both hands that could be increased voluntarily, dysarthria, and bilateral dysmetria (finger-to-nose test). [elsevier.es]

  • Drop Attacks

     Characteristically, visual seizures are the first manifestation, followed by generalized tonic–clonic seizures, absences, or drop attacks.  Visual seizures present as transient blindness, simple or complex visual hallucinations.  Myoclonus is often [slideshare.net]

    Patients 1, 2, 4 and 7 had drop attacks beginning around the age of 13 or 14 years. Generalized tonic clonic seizures were documented in all except Patient 2. [academic.oup.com]

  • Recurrent Headache

    Clinical manifestations of the patients include cerebellar ataxia with myopathy, recurrent headache, and myoclonus and epilepsy.... SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. [connection.ebscohost.com]

  • Cerebellar Disease

    Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified [books.google.de]

  • Onset at Age <20

     Patients with onset before age 20 years often present with the phenotype of PME, characterised by ataxia, seizures, myoclonus, and progressive intellectual deterioration. 39.  caused by unstable expansion of CAG repeats of a gene at 12p13.31.  MRI [slideshare.net]

[…] activator protein PTG and interaction with laforin.[21] Because of clinically atypical features, some patients with mild Lafora disease could escape a correct diagnosis because adult patients with mild PME traditionally have not undergone diagnostic workup [thieme-connect.com]

  • Multifocal Epileptiform Discharges

    Girard showed slowing background with frequent generalized and multifocal epileptiform discharges in PME.[5] De Siqueira[6] found that photosensitivity with frequent interictal and ictal discharges could be seen in PME. [journals.lww.com]

  • Multifocal Discharges

    Focal or multifocal discharges are rarely reported in Unverrict–Lundborg disease (Westmoreland et al., 1979; Magaudda et al., 2006; Kälviäinen et al., 2008). [academic.oup.com]

Treatment The medical treatment of progressive myoclonic epilepsy is often successful only for a few months or years. These patients may require more than one seizure medicine. [checkorphan.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment may include certain anticonvulsant drugs to control seizures. Genetic counseling may be recommended for affected individuals and their families as well. [diseaseinfosearch.org]

Treatment  Replacement therapy with high doses of exogenous enzyme, may halt or even reverse neurological progression although the outcome is not always favorable. 45. [slideshare.net]

However, the female patient has a poor prognosis. In the following visit, she has serious sleep problems, such as sleep fragment and insomnia due to her sensitivity to the light and voice. [journals.lww.com]

Prognosis - Epilepsy progressive myoclonic type 3 Not supplied. Treatment - Epilepsy progressive myoclonic type 3 The medical treatment of progressive myoclonic epilepsy is often successful only for a few months or years. [checkorphan.org]

Prevalence Genetics Brain Area Affected Prognosis Rare. Exact prevalence is unknown. Caused by mutations in the MT-TK gene in 80% of cases. [tempobioscience.com]

These diseases as a group are important because of a generally poor response to antiepileptic medication, an overall poor prognosis and inheritance risks to siblings or offspring (where there is a proven genetic cause). [pn.bmj.com]

Recently, PMEs have been recognized as a group of syndromes with specific etiologies. However, few studies demonstrated the EEG changes in PME in details. [journals.lww.com]

Applicable To Drug-induced myoclonus Palatal myoclonus Use Additional Use Additional Help Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10data.com]

Over the last two decades, considerable developments have occurred in the field of PMEs and they have been recognized as a group of syndromes with specific etiologies. 2 Macular cherry red spot is an important diagnostic marker in children with myoclonic [neurologyindia.com]

Over the last two decades, considerable developments have occurred in the field of PMEs and they have been recognized as a group of syndromes with specific etiologies. [2], [3], [4] Genetic tests had further enhanced the understanding of the disease process [bioline.org.br]

Molecular genetics has emerged as a useful tool for enhancing subtype classification of neuronal ceroid lipofuscinoses.[25] There are 14 genetic forms (CLN1 to CLN14) described to date and 360 etiological mutations, most of which have been included in [thieme-connect.com]

Epidemiology[edit] PME accounts for less than 1% of epilepsy cases at specialist centres. [en.wikipedia.org]

Epidemiology of the mitochondrial DNA 8344A G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. J Neurol Neurosurg Psychiatry 2003; 74: 1158–1159. PubMed CrossRef Google Scholar 9. DeVivo DC, DiMauro S. [link.springer.com]

But recognizing the phenomenology and understanding the pathophysiology are essential to ensure appropriate treatment. Hyperkinetic Movement Disorders provides a clinical pathway for effective diagnosis and management of these disorders. [books.google.de]

The nosology and pathophysiology of myoclonus. Mov Disord 1982:196–248. Google Scholar 2. Fahn S, Marsden CD, Van Woert MH. Definition and classification of myoclonus. Adv Neurol 1986; 43:1–5. PubMed Google Scholar 3. Nirenberg MJ, Frucht SJ. [link.springer.com]

Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 2014; 12 (Suppl. 01) 72-81 37 Park JK, Orvisky E, Tayebi N, et al. [thieme-connect.com]

Our database lists the following as having Epilepsy, progressive myoclonic 3 as a symptom of that condition: * Dentatorubral Pallidoluysian Atrophy Prevention - Epilepsy progressive myoclonic type 3 Not supplied. [checkorphan.org]

Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention [aboutkidshealth.ca]

Screening and prevention of colorectal cancer Source: Finnish Medical Society Duodecim This article is freely available only to users in the UK. [evidence.nhs.uk]

Treatments For many patients, correct treatment can lower or prevent seizures. The most common treatment is anti-seizure medications. However, other treatment options are available. [cedars-sinai.edu]