Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and pathological features of a sporadic case of juvenile neuroaxonal dystrophy beginning at the age of 10 and leading to death at the age of 26 are described. Clinical manifestation began with cerebellar symptoms. The subject subsequently developed dementia, pes cavus (Friedreich's feet), epilepsy, myoclonus, and Parkinsonian syndrome, but demonstrated neither tremor nor choreoathetoid movement. Pathological examination showed typical generalized axonal dystrophy throughout the central nervous system (Seitelberger's disease). Iron-positive pigmentation was seen in the pallidonigral system, diffuse Lewy bodies (brainstem type and cerebral type) were demonstrated in the brainstem nuclei and cerebral cortex, and neurofibrillary tangles were observed.
 ...
PMID:An autopsy case of late infantile and juvenile neuroaxonal dystrophy with diffuse Lewy bodies and neurofibrillary tangles. 137 97

A case of infantile neuroaxonal dystrophy (I.N.A.D.) with late onset is described with protracted course and predominant myoclonic-epileptic symptomatology. A girl of 13 years died in myoclonic-epileptic state. She had suffered from a mild cerebellar deficit, slight intellectual impairment and increasing myoclonic attacks since the age of 5 years. A similar neurological syndrome, beginning at almost the same age, occurred in her younger brother who died at the age of 11 years from acute hepatic failure (without autopsy). Histological examination of the CNS in the girl revealed a diffuse neuroaxonal dystrophy, some areas of spongy degeneration in the cerebral and cerebellar white matter, cortical atrophy of cerebellum accompanied by demyelination of the spinocerebellar tracts, the fasciculus gracilis and the cortico-bulbar tracts. Such histological features are in keeping with those of I.N.A.D. or Seitelberger's disease. The clinical features, however, differ considerably from the latter as well as from Hallervorden-Spatz's disease and seem to belong, instead, to the group of progressive myoclonus epilepsies. In the differential diagnosis of these rare conditions, therefore, also the I.N.A.D. ought to be considered.
 ...
PMID:Late infantile neuroaxonal dystrophy. An unusual case with predominantly myoclonic-epileptic symptomatology. 678 39