Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report the case of an 8 year-old boy who, when he was 2 1/2 years old, suffered from spasmodic mouth twitches. At the age of four, various other symptoms appeared: psychomotor backwardness, frequent fails and a photomyoclonic response on electroencephalogram. At the age of 5 1/2, noticeable difficulties appeared in walking with a broad-based gait, hypotonia, and intentional trembling associated with hypokinesia and dysarthria. When he was six, the first convulsive seizure appeared, then myoclonies which became continuous. The child gradually became bedridden. The family history tends to show these disorders can be linked with a Huntington chorea affecting six generations. This case is very similar to that previously described by the authors, in an 8 year-old girl where an anatomic examination revealed the existence of lesions characteristic of Huntington's disease associated with lesions of the cerebellum. The authors, on the basis of the data provided by the literature, discuss the myoclonic and cerebellous aspect of this infantile form. Lacking anatomic evidence, they stress the interest of the biochemical disturbances affecting the cerebral monoamines noted in this observation.
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PMID:[Myoclonic type of Huntington's chorea (author's transl)]. 14 49

EMG of involuntary muscle contractions and their correlation with clinical pictures in Huntington's disease disclosed a series of motor disorder from chorea to parkinsonism. Irregular brief contractions appearing reciprocally in flexor or extensor muscles were observed in typical chorea with hypotonia. Tonic nonreciprocal contractions appeared in the rigid form. In athetoid movement or dystonic postures, more slowly nonreciprocal fluctuating contractions appeared. In some cases phasic contractions changed from a reciprocal to nonreciprocal pattern by psychic stress. In contrast to the activation of motoneurons in choreatic movements, involuntary brief suppression of voluntary contraction appears in typical chorea. Difference in involuntary movements and muscle tone may result from quantitative differences in involvement of striatal neurons which are the origin of parallel pathways proposed by DeLong and colleagues.
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PMID:The spectrum of motor disorders in Huntington's disease. 132 May 6

A case of chorea-acanthocytosis (CA) syndrome is described. CA is a rare, inherited syndrome characterized by normolipoproteinemic acanthocytosis and progressive neurological disturbances (orofacial dyskinesia, limb chorea, lip and tongue biting, distal muscle wasting, muscle hypotonia, absent or diminished tendon reflexes) with adult onset. Thus far, 10 independent reports of CA have been published. The present case is the first patient reported in Europe outside Great Britain. Due to obvious clinical similarities between CA and Huntington's chorea, particular attention is drawn to the differential diagnosis between these 2 syndromes. Investigation of the red blood cell morphology should necessarily be performed in the examination of choreic patients, particularly when the disorder is familial.
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PMID:Chorea-acanthocytosis. Neurological disease with acanthocytosis. 661 27

Neuropathological studies of a woman with chorea-acanthocytosis were reported. The patient clinically showed generalized epileptic seizures, choreatic involuntary movements, hypotonia , areflexia, neurogenic muscular atrophy, tongue-biting and acanthocytosis of the peripheral blood and died from asphyxia at the age of 34. Autopsy revealed atrophy of the caudate nucleus but the cerebral cortex was well preserved. Histological examination showed severe neuronal loss associated with moderate fibrous gliosis of the caudate. The putamen was similarly but less markedly affected. The small striatal neurons were more severely depopulated than the large neurons, although the latter were not spared. Cytometrical study of the caudate head revealed that the remaining small neurons were significantly larger in size than the normal small neurons of the same area. The anatomical substratum of the choreatic involuntary movements in chorea-acanthocytosis is thought to be the degeneration of the striatum, especially the caudate nucleus. Neuropathological differentiation of chorea-acanthocytosis from Huntington's chorea which shows similar pathology was discussed.
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PMID:Neuropathological study of chorea-acanthocytosis. 672 56

Juvenile Huntington disease (JHD) is a rare clinical entity characterized by disease onset before the age of 21. JHD accounts for <10% of Huntington disease patients. Transmission of JHD is paternal in 80-90% of cases. Patients with JHD usually carry more than 60 CAG repeats within the HTT gene. We report here on a 23-month-old boy presenting with global developmental delay first noted at 18 months of age. Clinical examination showed truncal hypotonia, postural and intentional tremor, limb rigidity, and ataxia. Cerebral magnetic resonance imagery (MRI) showed reduced cerebellar volume. Six months later, his 47-year-old father was seen for a 4-year history of progressive dementia with severe behavioral disturbance and chorea. Cerebral MRI showed discrete global and caudate atrophy. DNA analysis revealed a very large and heterogeneous expansion (210-250 CAG) in the child and a 43 CAG expansion of the HTT gene in the father. This unusual case demonstrates that very early onset JHD due to large CAG expansions should be considered in cases of global developmental delay associated with reduced cerebellar volume, including cases without known HD family history.
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PMID:Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume. 2141 77

We report compound heterozygous variants in HTT, the gene encoding huntingtin, in association with an autosomal recessive neurodevelopmental disorder. Three siblings presented with severe global developmental delay since birth, central hypotonia progressing to spastic quadraparesis, feeding difficulties, dystonia (2/3 sibs), prominent midline stereotypies (2/3), bruxism (1/3), high myopia (2/3), and epilepsy (1/3). Whole exome sequencing identified compound heterozygous variants in HTT that co-segregated in the three affected sibs and were absent in an unaffected sib. There were no additional variants in other genes that could account for the reported phenotype. Molecular analysis of HTT should be considered, not just for Huntington's disease, but also in children with a Rett-like syndrome who test negative for known Rett and Rett-like syndrome genes.
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PMID:A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. 2783 62

Striatum is the central structure controlling movement. It plays a pivotal role in the regulation of voluntary movement, unconscious movement, muscle tone, posture adjustment and fine movement. Dysfunction of striatum causes a variety of movement disorders ranging from the hypokinetic disorders with increased muscle tone, such as Parkinson's disease, to the hyperkinetic disorders with decreased muscle tone, such as Huntington's disease. It is generally recognized that striatum receives the neural movement signals from the motor cortex, and then processes and modifies these signals and subsequently transfers the signals back to the motor cortex via thalamus for execution of the movement through pyramidal system. The movement control function of striatum depends on a complex neural circuit system. In this review, the studies on the movement control function of striatum as well as the striatal neural circuit system are summarized with an emphasis on the progress made during recent years for better understanding the mechanism underlying the movement control function as well as the disease association of striatum.
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PMID:[Movement Control of Striatum Neural Pathway]. 2988 93