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)

Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation sensitivity and a highly increased proneness to cancer. A-T is ethnically widespread and genetically heterogeneous, as indicated by the existence of four complementation groups in this disease. Several "A-T-like" genetic diseases share various clinical and cellular characteristics with A-T. By using linkage analysis to study North American and Turkish A-T families, the ATA (A-T, complementation group A) gene has been mapped to chromosome 11q23. A number of Israeli Arab A-T patients coming from large, highly inbred families were assigned to group A. In one of these families, an additional autosomal recessive disease was identified, characterized by ataxia, hypotonia, microcephaly and bilateral congenital cataracts. In two patients with this syndrome, normal levels of serum immunoglobulins and alpha-fetoprotein, chromosomal stability in peripheral blood lymphocytes and skin fibroblasts, and normal cellular response to treatments with X-rays and the radiomimetic drug neocarzinostatin indicated that this disease does not share, with A-T, any additional features other than ataxia. These tests also showed that another patient in this family, who is also mentally retarded, is affected with both disorders. This conclusion was further supported by linkage analysis with 11q23 markers. Lod scores between A-T and these markers, cumulated over three large Arab families, were significant and confirmed the localization of the ATA gene to 11q23. However, another Druze family unassigned to a specific complementation group, showed several recombinants between A-T and the same markers, leaving the localization of the A-T gene in this family open.
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PMID:Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome. 155 65

Myopathy may be associated with the syndrome of seroconversion in individuals infected by the human immunodeficiency virus (HIV) or may represent the initial symptom of AIDS. In 1990, 39-year old white, single homosexual who was admitted 1 month prior had experienced an episode of edema and pain in the left thigh that faded with the use of nonhormonal antiinflammatory drugs. 15 days later both forearms became enlarged accompanied by pain and erythema. Erythromycin and cefalexine were used without success. Intermittent fever started to appear before admission accompanied by dyspnea when straining. Examination showed tachypnea, oral candidiasis, and enlargement of both upper arms with pain and local erythema without articular involvement. Neurological examination revealed hypotonia and generalized hyperreflexia with intact muscle strength. Serology was positive for HIV, rheumatic activity tests were negative, and muscle biopsy indicated multifocal myonecrosis. Creatinine phosphokinase was 1019 IU (decrease to 44 IU after treatment), aldolase was 19 IU (decrease to 5.6 IU), and glutamic-pyruvic transminase was 50 IU (decrease to 22 IU). Radiography of the thorax indicated interstitial infiltration. Fiberoptic bronchoscopy indicated Pneumocystis carinii pneumonia. Sulfamethoxazole and trimetropim treatment cured the dyspnea and hypoxemia, but the enlargement of both arms progressed. Capillaroscopy indicated vasculitis that was treated without success with indomethacin (150 mg/day), for 7 days; prednisone (40-80 mg/day) for 10 days; and dexamethasone (280 mg/day) for 2 days. 6 days after methotrexate (50 mg/dose/week) treatment the fever disappeared and the enlargement in the extremities receded, but a lower dose of 7.5 mg caused the return of fever and edema in the right thigh. The myopathy remained asymptomatic for 5 months with a weekly dose of 15 mg of methotrexate.
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PMID:[AIDS and myopathy: report of a case and review of the literature]. 180 40

Three children presenting with neurological symptoms were subsequently diagnosed as being infected with the human immunodeficiency virus I (HIV). All children showed normal development for about 12-18 months of age but later developed psychomotor and developmental regression. One child presented with generalised hypotonia, another with focal seizures, and the third with spastic quadriplegia. Two of the children showed areas of abnormal brain density on computed tomography and in one case there was calcification of the basal ganglia. In two of the children cerebrospinal fluid contained reduced amounts of total folate and elevated concentrations of neopterin. The possibility of a link between the deranged folate metabolism and the neurological symptoms in HIV infection is discussed.
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PMID:Neurodevelopmental delay and focal seizures as presenting symptoms of human immunodeficiency virus I infection. 246 97

A nine-month-old female Jamaican infant presented with a history of severe failure to thrive, recurrent pneumonia and developmental delay. She was found to have hepatosplenomegaly, generalised lymphadenopathy and hypotonia. Investigations revealed polyclonal hypergammaglobulinaemia, cytomegalovirus in her urine, and patchy lung infiltrates on her chest radiographs. Three separate tests were positive for human immunodeficiency virus in both the infant and her mother, suggesting vertical transmission, and confirming AIDS as the cause of the severe failure to thrive.
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PMID:AIDS in an infant causing severe failure to thrive. 366 67

Chediak-Higashi syndrome (CHS) is a hereditary, biphasic immunodeficiency syndrome which usually leads to early death, during the first decade. The second phase is characterized by a lymphoproliferative syndrome with histiocytic infiltrations in various tissues. Recently the gene has been identified on chromosome 1q43. In the patient presented here, a mutation within codon 3197 was found, resulting in a frame-shift. Additionally, Duchenne muscular dystrophy (DMD) was diagnosed by immunostaining of the muscle. Unusual for both CHS and DMD muscle weakness and hypotonia became evident during the first months of life. Compared to typical DMD cases we found an increased histiocytic infiltration in the muscle. The underlying muscular dystrophy probably predisposes to the affection of muscle in the second phase of CHS. This patient is presented as an example of modification of the phenotype by a second genetic disease.
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PMID:Dystrophinopathy in a boy with Chediak-Higashi syndrome. 982 79

The aim of the study was to detect neurological abnormalities in human immunodeficiency virus (HIV) infected children. This was achieved by a prospective evaluation, from November/1995 to April/2000, of 43 HIV infected children (group I) and 40 HIV seroreverters children (group II) through neurological exam and neurodevelopmental tests: Denver Developmental Screening Test (DDST) and Clinical Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS). A control group (III), of 67 children, were evaluated by CAT/CLAMS. Hyperactivity, irritability and hypotonia were the findings on neurological examination, without statistical differences between group I and II. On CAT/CLAMS, the group I developmental quotient (DQ) was significantly lower than the other groups. The same occurred in DDST, with group I presenting significantly more failures than group II. Nineteen HIV children of group I had brain computed tomographic scan, with abnormalities in three of them (basal ganglia calcification, white matter hypodensity and asymmetry of lateral ventricles). We conclude that in HIV infected children a neurodevelopment delay occur early in the disease, and it can be detected by screening tests.
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PMID:Developmental milestones of vertically HIV infected and seroreverters children: follow up of 83 children. 1159 66

Purine nucleoside phosphorylase (PNP) deficiency results in an autosomal recessive immunodeficiency disease characterized by initial involvement of cellular immunity and neurological manifestations with subsequent abnormalities of humoral immunity. The initial presentation and clinical course has varied widely in the relatively few published cases. The molecular basis has been reported in only 10 patients, precluding evaluation of phenotype-genotype relationships. We now report clinical, immunologic, and molecular findings in a new case of relatively early onset that emphasizes hypotonia and developmental delay as early manifestations. The patient carried two novel missense mutations (Gly56A1a and Val217Ile) on the same allele in apparent homozygosity. Expression of each of the mutant enzymes in vitro demonstrated that the Gly156A1a mutation abolished enzyme activity while the Val217Ile mutation was without obvious effect and is therefore a normal variant. Such "normal" polymorphisms might be associated with a variable response to the immunosuppressive PNP inhibitors currently in clinical trials.
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PMID:Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious. 1248 96

Hyperimmunoglobulin M syndrome is a rare primary immunodeficiency disorder. We report a case of a 6-month-old boy who suffered from developmental delays, frequent respiratory tract infection, and unusual fungal and bacterial infection. X-linked hyperimmunoglobulin M syndrome was ultimately diagnosed with decreasing immunoglobulin-G, A, and E (immunoglobulin G = 51.3 mg/dL, immunoglobulin A = 8.32 mg/dL, immunoglobulin E <17.5 mg/dL), elevating immunoglobulin M (immunoglobulin M = 140 mg/dL), and decreasing T-cell expression of the CD40 ligand over flow cytometry. Seizure episodes and hypotonia developed with greater signal intensity at the putamen in a brain magnetic resonance imaging, which is compatible with hypoxic ischemic encephalopathy. This is the youngest proven case of hyper-IgM syndrome in Taiwan ever reported.
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PMID:Hyper-IgM syndrome: a case report. 1458 69

A 2-year-old boy who was failing to thrive and who had multiple anomalies was found to have a maternally derived tandem duplication of the long arm of the X chromosome: dup(X)(q13.2-q21.2). The karyotyping interpretation was further confirmed by fluorescence in situ hybridization studies in which a double gene dosage of the X-inactivation-specific transcript (gene locus on Xq13.2) and a whole chromosome X painting on the abnormal X were noted. He suffered from hypotonia, gastroesophageal reflux, laryngomalacia, recurrent infections, immunodeficiency (IgG4 deficiency), dysgenesis of the corpus callosum, proximal renal tubular acidosis, and nephrolithiasis. His mother and elder sister also had the same rearrangement, the dup(X), on one of their X chromosomes. However, the mother was in good health, but the sister suffered from nephrolithiasis. The clinical variability in this family with the Xq duplication is reported and discussed.
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PMID:Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family. 1560 9

Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder characterized by multiple congenital anomalies and various degrees of cognitive deficits. This condition results from a deficiency of 7-dehydrocholesterol reductase, a critical step in cholesterol biosynthesis. Children with Smith-Lemli-Opitz syndrome have frequent infections, particularly of the respiratory tract. Immunodeficiency, however, is not recognized as a part of this metabolic condition. Frequent infections are usually attributed to a decreased patient mobility and reduced respiratory effort secondary to muscular hypotonia and mental retardation, which are often present in affected individuals. We describe a patient with Smith-Lemli-Opitz syndrome and recurrent respiratory infections who was found to have a selective antibody deficiency. The immunological diagnosis was based on an absent immune response to Pneumovax. She also had no immunological response to hepatitis B vaccine and was unable to break down red cells with isoagglutinin B. Therapy with intravenous IgG (IVIG) was initiated. Infections were less severe, although they still occurred in a high frequency after initiation of the IVIG therapy. This finding prompts the need for a higher index of suspicion for an underlying immune deficiency in patients with Smith-Lemli-Opitz syndrome who present with recurrent and chronic infections. Early recognition and appropriate therapeutic interventions may decrease the severity of infections, prevent potentially fatal infections, and eventually improve the quality of life in these patients.
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PMID:Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome. 1587 7


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