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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Diagnosis and management of the progressive myoclonus epilepsies (PMEs) provides a challenge to the clinician and neurophysiologist. Over 15 specific disorders can cause the PME syndrome; all are rare, and individual physicians are unlikely to have experience in all of them. Accurate diagnosis is essential to provide a prognosis, optimal therapy, and genetic counseling. The major causes are PME of the Unverricht-Lundborg type, Lafora disease, neuronal ceroid lipofuscinoses (three forms), MERRF (myoclonus epilepsy and ragged red fibers), and sialidoses (two forms), in addition to a number of even rarer disorders. Here we review the clinical aspects and neurophysiology of these disorders, which can now be diagnosed in life by relatively simple methods in the vast majority of cases.
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PMID:Progressive myoclonus epilepsies: clinical and neurophysiological diagnosis. 191 32

A 22-year-old female with progressive myoclonus epilepsy (PME) considered to be due to hereditary dentato-rubro-pallido-luysian atrophy (DRPLA) was reported. Some of her family members showed progressive myoclonus, seizures, dementia, ataxia and choreoathetosis, with variation of onset from childhood to adult life, which suggested that they had been suffering from DRPLA. CT scan and MRI studies, including some on family members, revealed cerebral and cerebellar atrophy accompanied by dilatation of the fourth ventricle, compatible with the findings in DRPLA reported previously. We emphasize that a detailed family history may be essential in dealing with a PME patient and that DRPLA should be considered in the differential diagnosis of the PME syndrome with onset in childhood, in Japan.
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PMID:Progressive myoclonus epilepsy: dentato-rubro-pallido-luysian atrophy (DRPLA) in childhood. 195 76

Myoclonus epilepsy associated with ragged-red fibers (MERRF) is a degenerative disease involving dentate nuclei of the cerebellum, globus pallidus, the posterior columns and spinocerebellar tracts of the spinal cord, and skeletal muscles. Abnormal mitochondria were observed in the cells of the cerebellar cortex and of the dentate nuclei. The main symptoms of this disease include cerebellar ataxia and myoclonus in addition to muscular wasting. Patients with MELAS occasionally have myoclonus, but they never have myoclonus as their initial symptoms. Most of the patients with both clinical features of MERRF and MELAS were regarded as belonging to the category of MELAS.
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PMID:MERRF: a clinicopathological study. Relationships between myoclonus epilepsies and mitochondrial myopathies. 196 54

The authors compare the clinical, neurophysiological and evolutive features of progressive myoclonus epilepsy (PME) associated with mitochondrial encephalomyopathy with ragged-red fibers (MERRF), based on 49 cases from the literature, and the two well-described types of degenerative PME: Baltic myoclonus (BM), of which over 100 cases have been reported from Finland, and Mediterranean myoclonus (MM), based on a personal series of 43 patients. Degenerative PMEs are age-dependent, recessively inherited conditions with homogeneous clinical signs and course; there are no major clinical symptoms beside the cardinal symptoms: generalized epileptic seizures, predominantly action myoclonus and cerebellar dysfunction; mental deterioration when present, is slight and progresses very slowly; associated neurological symptoms are uncommon and limited to mild spino-cerebellar involvement. In MERRF, the transmission is maternal, the age of onset is variable, the evolution is not stereotyped and associated symptoms are many (deafness, muscle weakness, optic atrophy, short stature, sensory disturbances, spasticity, clinical or neurophysiological signs of peripheral neuropathy, absence of motor reflexes); muscle biopsy generally shows ragged-red fibers. The differential diagnosis between these conditions is usually easy, although pathological examination (i.e. muscle biopsy) should be performed.
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PMID:[The role of mitochondrial encephalopathies in progressive myoclonus epilepsy]. 196 55

We studied the effect of apomorphine, a dopamine receptor agonist, on epileptic photosensitivity in 7 patients with progressive myoclonus epilepsy (PME). Specific diagnoses included Baltic PME (Unverricht-Lundborg disease), Lafora disease, Kufs' disease, juvenile neuroaxonal dystrophy, and action myoclonus-renal failure syndrome; 2 patients had PME of uncertain etiology. Apomorphine blocked the epileptic photosensitivity in all patients and also reduced intention myoclonus in a patient with Baltic PME. There is a common deficit of dopaminergic inhibitory neurotransmission at the level of the striate cortex in patients with PME, regardless of the nature of the specific underlying neuropathologic process.
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PMID:Common dopaminergic mechanism for epileptic photosensitivity in progressive myoclonus epilepsies. 190 98

It has been suggested from studies of patients with progressive myoclonus epilepsy that the term Ramsay Hunt syndrome should be abandoned, as its use has led to nosologic confusion, and because, in the light of modern diagnostic techniques, the majority of cases can be allocated to specific disease categories, chiefly, Unverricht-Lundborg disease (Baltic myoclonus) and mitochondrial encephalomyopathy. Review of 30 cases of this syndrome, defined as progressive ataxia and myoclonus and infrequent seizures in the absence of dementia, showed that a clinical or biochemically supported diagnosis could not be made in 43%. This low diagnostic yield probably reflects differences in ascertainment of patients; those described here were referred with a syndrome of progressive myoclonic ataxia (the Ramsay Hunt syndrome) rather than progressive myoclonus epilepsy. These two syndromes share common causes, but a smaller proportion of patients with progressive myoclonic ataxia can currently be diagnosed precisely during life.
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PMID:Progressive myoclonic ataxia (the Ramsay Hunt syndrome). 212 Nov 21

The Lafora type of progressive myoclonus epilepsy is a rare and fatal familial disease characterized by seizures, myoclonus, and dementia. This diagnosis was confirmed in 2 patients by demonstrating the presence of intracytoplasmic polyglucosan bodies, or Lafora bodies, in the peripheral portion of the eccrine sweat gland duct. Exclusive use of the periodic acid-Schiff stain is recommended for demonstrating these diagnostic inclusions. Electron microscopy reveals fine pale-staining filaments, fine dark-staining granules, and dark-rimmed vacuoles within these non-membrane-bound inclusions. Skin biopsy is the preferred method of confirming the diagnosis of Lafora disease.
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PMID:Diagnosis of Lafora disease by skin biopsy. 245 16

We report 2 brothers with progressive ataxia, seizures, myoclonus, supranuclear ophthalmoplegia, progressive visual loss and embolic strokes. The epilepsy and myoclonus came on many years after the onset of the ataxia. In the more severely affected brother the myoclonus was often unilateral and focal but ultimately involved both sides of the body. His sibling had only unilateral myoclonus after a contralateral middle cerebral artery stroke. When focal, persistent and unilateral, the myoclonus in both brothers was clinically similar to epilepsia partialis continua except that muscles of the trunk and proximal limbs were the most affected. It was exacerbated by movement of the affected part but was otherwise not stimulus sensitive. The more severely affected brother had a pigmentary retinopathy and a cardiac fibromyxoid valvulopathy. In his sibling, visual loss was not fully investigated and the heart was not examined at autopsy though he had a longstanding heart murmur. Neuropathological studies showed pancerebellar cortical atrophy, cell loss in the inferior olivary nuclei and old right middle cerebral artery infarctions in both brothers. Biochemical assays for known metabolic diseases were negative. We suggest that this syndrome represents a unique autosomal recessive form of progressive myoclonus epilepsy of unclear aetiology. It is distinguished from other familial myoclonus epilepsies by the presence of early onset cerebellar ataxia, supranuclear ophthalmoplegia, pigmentary retinopathy and possibly cardiac valvulopathy with subsequent cerebral emboli.
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PMID:Myoclonus epilepsy in two brothers. Clinical features and neuropathology of a unique syndrome. 308 70

Progressive myoclonus epilepsy (PME) without Lafora bodies, or Baltic myoclonus epilepsy, is characterized by stimulus-sensitive myoclonus, generalized tonic-clonic seizures, and an irregularly progressive course beginning between 6 and 15 years of age. The EEG displays spike-and-wave paroxysms with irregular dominant activity. Baltic myoclonus epilepsy is a single-gene disorder inherited in an autosomal recessive pattern. Early cases were reported from Estonia, and many are now found in Finland, suggesting that the gene frequency is increased in those sharing the Finno-Ugric linguistic base. The use of phenytoin should be avoided in this disorder since its continued administration alone or with other antiepileptic drugs is associated with intellectual and motor deterioration, aggressive behavior, increasing ataxia, and even death. Treatment with valproate and the concomitant elimination of phenytoin have been associated with marked improvement in most cases. Baltic myoclonus epilepsy must be distinguished from Lafora body PME, which is relentlessly progressive and invariably fatal, but can usually be differentiated on clinical grounds.
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PMID:Effect of phenytoin on the mental and physical function of patients with Baltic myoclonus epilepsy. 311 15

We describe a family showing dentatorubral-pallidoluysian atrophy. Three patients appeared through three successive generations and displayed a wide variety of clinical pictures. The male proband with onset in childhood showed progressive myoclonus epilepsy syndrome. The father experienced cerebellar ataxia, myoclonus, and mild dementia starting in middle age; the paternal grandmother had progressive symptoms of cerebellar ataxia, choreiform movements, and dementia, but neither myoclonus nor epilepsy in senescence. Neuropathologic examination of two patients, the proband and the paternal grandmother, revealed combined degeneration of the dentatorubral and pallidoluysian systems and obvious degeneration involving the striatum in the proband and the cerebellar cortex in the grandmother. The present study indicates that this disease can include many clinical and pathologic variants even in the same family.
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PMID:Hereditary dentatorubral-pallidoluysian atrophy: clinical and pathologic variants in a family. 338 24


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