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)

This is a preliminary note on the occurrence of the disequilibrium syndrome (DES) in the Dariusleut Hutterites of Montana. Previously the condition was reported in the Dariusleut of Alberta by Schurig et al [1981] as an autosomal recessive, non-progressive neurological disorder with congenital hypotonia, considerable psychomotor retardation, unsteady broadly based gait and stance, increased deep tendon reflexes, and mild to moderate mental retardation. Affected individuals were short. In the Montana family studied by us in 1981, a brother and three sisters are affected.
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PMID:Disequilibrium syndrome in Montana Hutterites. 406 89

We report a nonprogressive neurological disorder in at least 11 Hutterites with healthy but consanguineous parents. In several of the affected, hypotonia was noted at birth. Retarded motor and mental development became apparent during the first year of life. The age of unsupported walking varied from 5-21 years. Consistent signs were unsteady, broadly based gait and stance, exaggerated deep tendon reflexes mainly in the lower limbs, and mild to moderate mental retardation. Variable signs were extensor plantar reflexes (9/11), short stature (-2SD in 8/11), strabismus (7/11), small muscle mass (6/11), mild intention tremor (3/11), cataracts (1/11), and epilepsy (1/11). CAT scans in two affected sisters showed slight enlargement of the fourth ventricle in one and hypoplasia of the cerebellum in both. The disorder is probably the same as that described earlier under the heading, dysequilibrium syndrome.
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PMID:Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. 724 19

Based on a case report, the combined occurrence of a hypopituitary crisis and acute renal failure (ARF) is discussed. Aetiologically, the patient's disease dates back to an operation on the pituitary gland 40 years previously followed by a panhypopituitarism. The course of the disease presented initial symptoms which did not suggest a hypopituitary crisis to the first physician. The patient was hospitalized primarily on the tentative diagnosis of encephalitis. Subsequently, both laboratory findings and sonography of the abdomen pointed to chronic renal failure. The severity of the clinical course led to the transfer of the patient to our hospital for haemodialysis. Examination of the soporous patient revealed in addition to symptoms of ARF based on ambilateral pyelonephritic nephrocirrhosis typical cardinal symptoms of an endocrine insufficiency. Sopor, serious exsiccosis, pale, cool, pigmentless skin, deficiency of axillary and pubic hair, gonadal atrophy, hypotonia, hypothermia, bradypnoea and bradycardia as well as anamnesis of the patient substantiated the tentative diagnosis of a hypophysical coma based on hypopituitarism, clinically dominated by hypothyroidism. Following an immediately launched hormone substitution in combination with haemodialysis the state of the patient improved. However, during the fifth haemodialysis cardiac arrest occurred, the cause of which was put down to a dysequilibrium syndrome. The cause, however, must be seen in a continuing stress situation, inadequate hormone substitution and in sedation with diazepam. After reanimation the patient was transferred to the ICU.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Pituitary crisis and acute renal failure--a case report]. 814 59

Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. Here, we report the first patient heterozygous for 2 novel mutations in VLDLR. An 18-month-old girl presented with significant hypotonia, global developmental delay, and truncal and peripheral ataxia. Magnetic resonance imaging of the brain demonstrated hypoplasia of the inferior cerebellar vermis and hemispheres, small pons, and a simplified cortical sulcation pattern. Sequence analysis of the VLDLR gene identified a nonsense and missense mutation. Six mutations in VLDLR have now been identified in 5 families with a phenotype characterized by moderate-to-profound mental retardation, delayed ambulation, truncal and peripheral ataxia, and occasional seizures. Neuroanatomically, the loss-of-function effect of the different mutations is indistinguishable. VLDLR-associated cerebellar hypoplasia is emerging as a panethnic, clinically, and molecularly well-defined genetic syndrome.
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PMID:Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome). 1933 71

Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes a constellation of findings including non-progressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia following an autosomal recessive pattern of inheritance and can be caused by mutations in the Very Low Density Lipoprotein Receptor (VLDLR). Interestingly, while the majority of patients with VLDL-associated cerebellar hypoplasia in the literature use bipedal gait, the previously reported patients of Turkish decent have demonstrated similar neurological sequelae, but rely on quadrupedal gait. We present a consanguinous Turkish family with two siblings with cerebellar atrophy, predominantly frontal pachygyria and ataxic bipedal gait, who were found to have a novel homozygous deletion in the VLDLR gene identified by using high-density single nucleotide polymorphism microarrays for homozygosity mapping and identification of CNVs within these regions. Discovery of disease causing homozygous deletions in the present Turkish family capable of maintaining bipedal movement exemplifies the phenotypic heterogeneity of VLDLR-associated cerebellar hypoplasia and ataxia.
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PMID:Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. 2008 5

Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity mapping revealed that several shared homozygous regions, including chromosome 13q12. Targeted next-generation sequencing of an affected individual followed by segregation analysis, population screening and prediction approaches revealed a novel missense variant, p.I376M, in ATP8A2. The mutation lies in a highly conserved C-terminal transmembrane region of E1 E2 ATPase domain. The ATP8A2 gene is mainly expressed in brain and development, in particular cerebellum. Interestingly, an unrelated individual has been identified, in whom mental retardation and severe hypotonia is associated with a de novo t(10;13) balanced translocation resulting with the disruption of ATP8A2. These findings suggest that ATP8A2 is involved in the development of the cerebro-cerebellar structures required for posture and gait in humans.
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PMID:Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. 2289 28