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)

Joubert syndrome is characterized by episodic hyperpnea and apnea, developmental delay, hypotonia, truncal ataxia, ophthalmologic abnormalities, and vermian dysgenesis. We studied 15 patients with the diagnosis of Joubert syndrome to (1) more fully define the syndrome's clinical features, and (2) correlate the clinical features with magnetic resonance imaging (MRI) findings. Eight of 15 patients had a history of episodic hyperpnea and apnea. All patients had developmental delay and hypotonia. Of the 13 patients receiving detailed neuro-ophthalmologic evaluations, three had optic nerve dysplasia, pendular nystagmus, and gaze-holding nystagmus. All 13 patients had a normal vestibulo-ocular reflex based on head thrust, but had absent to poor ability to cancel the vestibulo-ocular reflex horizontally and vertically. Twelve of 13 patients had impaired smooth pursuit. Twelve of 13 patients had defects in initiation of saccades and quick phases. Two of the most consistent radiologic features were absent or hypoplastic posterior cerebellar vermis, and deformed midbrain and pontomesencephalic junction, which based on ocular motor physiology correlate with the vestibulo-ocular reflex cancellation/ pursuit defect and saccade initiation defect, respectively. As a result of midbrain, vermian, and superior cerebellar peduncle abnormalities, axial neuroimaging showed a unique "molar tooth" appearance of these structures. These results indicate that Joubert syndrome results from maldevelopment of the midbrain and cerebellar vermis, producing a pathognomonic sign on MRI.
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PMID:"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. 937 98

Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease. Well-known features of GA1 are fronto-temporal brain atrophy with macrocephaly and acute encephalopathic episodes with striatal necrosis followed by dystonia, but some patients develop motor disease without overt crises and other biochemically affected individuals remain asymptomatic. Biochemical and molecular characterization is available and allows post- and prenatal diagnosis. The pathogenesis of fronto-temporal atrophy, macrocephaly, and basal ganglia necrosis is still not understood, and there is no close correlation between biochemical parameters and clinical outcome. There is, however, evidence suggesting that carnitine supplementation and anticatabolic treatment of intercurrent illness may arrest or prevent neurological deterioration, while the role of limitation of dietary lysine and tryptophane is not yet clear. Although pathogenetic aspects are poorly understood, the natural course of glutaric aciduria type 1 can be changed by early diagnosis and treatment. Coordinated research is needed to understand the pathogenesis of brain toxicity, to define the role of dietary therapy, and to explore the possibility of neonatal screening.
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PMID:Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. 939 91

An unusual presentation of biotinidase deficiency is described. The disorder classically presents in infancy or early childhood with intractable seizures, hypotonia, ataxia, hearing loss, dermatitis, and alopecia. A 5-year-old girl developed acute visual loss associated with optic atrophy, and disturbance of gait with predominantly lower-limb pyramidal signs. She had no seizures, and skin, hair, hearing, and intellect were normal. Biotinidase deficiency was confirmed biochemically and she responded well to biotin therapy. A diagnosis of biotinidase deficiency should be considered in children with unexplained bilateral optic neuropathy, particularly when there is accompanying gait disorder.
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PMID:Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. 943 60

Detailed neurological, speech and language, psychological, and neuroimaging studies were carried out in eight children with the diagnosis of congenital ocular motor apraxia. The neurological examination showed clinical evidence of cerebellar vermis abnormality (hypotonia and truncal ataxia) in all cases. Neuroimaging studies suggested that the site of neuropathological disturbance of congenital ocular motor apraxia was the inferior vermis. Half of the subjects had associated speech apraxia. The most likely location of brain disturbance, which was responsible for the speech apraxia, was also an as yet undefined area of the vermis. Psychological testing consistently revealed visual-spatial difficulties. These may have been secondary to cerebellar pathology or to developmentally inappropriate sensory input caused by the abnormal saccades. Children with speech apraxia appear to be slightly more affected neurologically than those with normal speech.
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PMID:Speech, cognition, and imaging studies in congenital ocular motor apraxia. 948 97

A 24-year-old male, who suffered since childhood from a progressive form of ataxia associated with peripheral neuropathy, was found severely deficient in serum vitamin E. He walked with bilateral aid and presented severe dysmetria of the limbs and dysarthric speech; muscular strength and trophism were slightly diminished in the distal muscles of four limbs and there was hypotonia of the arms; he presented absent deep tendon reflexes, bilateral Babinski's sign, reduced proprioception at four limbs, pes cavus and fasciculations of the tongue. Intestinal fat malabsorption and other gastrointestinal or haematological conditions associated with deficiency of this vitamin were ruled out. In this patient, after 2 years of a daily supplement of high doses of vitamin E, a further progression of the disease was not observed and, moreover, the neurophysiological characteristics of his neuropathy appeared clearly improved. A longitudinal evaluation of serum vitamin E levels showed values in the normal range after 13 months of therapy. The patient had molecular genetic analysis of chromosome 8 and was found homozygous for the unusual mutation 513insTT in the alpha-tocopherol transfer protein gene.
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PMID:Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. 958 54

We analyzed 13 patients with spinocerebellar ataxia type 2 (SCA2) in seven unrelated families who live in Gunma Prefecture, Japan (population approx. 2,000,000), and documented the clinical and molecular properties correlated with the CAG repeat expansion. Twelve of the 13 patients and one presymptomatic female were genetically examined, and the CAG repeat number of the expanded and normal alleles was 40.8+/-4.8 (mean+/-S.D., n=13) and 22+/-0 (n=13), respectively. The repeat size of the expanded alleles was inversely correlated with the patients' age at onset. Paternal anticipation was observed, accompanied by an increase of the CAG repeat size. The patients presented here were clinically characterized by a relatively higher frequency of slow saccades, hyporeflexia, hypotonia, and tremor. A number of peaks in the expanded allele on polyacrylamide gel electrophoresis showed the presence of cell mosaicism in SCA2 as well. In Gunma Prefecture, SCA2, Machado-Joseph disease and spinocerebellar ataxia type 6 are almost equally present and at higher frequencies than spinocerebellar ataxia type 1 and hereditary dentatorubropallidoluysian atrophy, which are rare. Thus, the difference of frequency of autosomal dominant spinocerebellar ataxias may be present in Japan.
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PMID:Analysis of spinocerebellar ataxia type 2 in Gunma Prefecture in Japan: CAG trinucleotide expansion and clinical characteristics. 958 55

We describe a familial mental retardation syndrome in a 30 year old, moderately mentally retarded female and her 59 year old maternal aunt. Both presented the distinct association of (1) a non-progressive neurological syndrome with ataxia and hypotonia, (2) similar craniofacial appearance with a narrow forehead, prominent supraorbital ridges and tendency to synophrys, deeply set eyes with short, upward slanting palpebral fissures, short philtrum, and large mouth, (3) hypergonadotrophic hypogonadism, and (4) retinal dystrophy with onset in early adulthood.
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PMID:Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy. 959 31

A 4-year-old girl with bilateral striatal oedema in association with an echovirus type 21 infection is reported. In the course of a prolonged upper respiratory-tract infection, the patient developed muscular hypotonia, resting tremor, ataxia, sleepiness, hyperaesthesia, and indistinct speech. T2-weighted cranial MRI revealed bilateral oedema of the basal ganglia and the cerebellar peduncles. At follow-up after 3 months MRI changes and clinical symptoms had fully resolved.
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PMID:Bilateral oedema of the basal ganglia in an echovirus type 21 infection: complete clinical and radiological normalization. 965 85

Congenital ataxias (CA) are rare, predominantly non-progressive syndromes characterized by marked hypotonia, developmental delay followed by the appearance of ataxia. Most children show marked speech and cognitive developmental problems. Non- progressive CA (NPCA) can be divided into pure CA without additional symptoms and syndromes with CA. Pure CA can be due to cerebellar malformations as (hereditary or non-hereditary) cerebellar hypoplasia, Dandy Walker syndrome, or occasionally supratentorial abnormalities. Ataxic syndromes are less frequent, but more distinctive. There are syndromes (e.g. Joubert syndrome) where ataxia is a cardinal feature and others where ataxia is only an occasional symptom. Acquired ataxias, due to congenital cytomegalovirus infection or perinatal problems, form a small third group. In about half of all cases with NPCA, aetiology and inheritance are still unknown. Diagnosis of NPCA is made by a typical history and careful clinical examination. Diagnosis of a more distinctive ataxic syndrome may be possible on clinical grounds. Neuroimaging with special attention to the posterior fossa will aid accurate clinical classification. Early progressive ataxias require careful differentiation from other types.
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PMID:Non-progressive congenital ataxias. 966 64

Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally pronounced ataxia. In one case infantile spasms were treated successfully with adrenocorticotropic hormone, although in follow-up the child suffered from occasional seizures. Magnetic resonance imaging showed in one case parieto-occipital pachygyria and in the other there was marked pachygyria, most pronounced over the parieto-occipital area. In both children cerebellar structures were normal. Cerebello-parietal connections are known to be responsible for acquired parietal limb ataxia. Although not proven, parietal lesions are the most likely etiology of congenital cerebellar ataxia in these two children. Therefore, cerebral, especially parietal pathology must be considered in children with congenital ataxia.
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PMID:Congenital ataxia of parietal origin? Report of two cases. 966 70


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