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 weaning process is a critical phase in patients undergoing mechanical ventilation. This process can be hampered by numerous causes, such as neuromuscular diseases and spinal muscular atrophy (SMA). We present a 6-month-old boy with respiratory distress, fever, marked hypotonia without motor developmental milestones, and areflexia. The patient showed progressive respiratory distress requiring mechanical ventilation. Definitive weaning was not achieved and the boy died from respiratory failure. Partial autopsy was performed with a diagnosis of SMA and genetic study of the parents. Neuromuscular diseases are an infrequent cause of respiratory insufficiency in suckling infants. The differential diagnosis is made between axonal and motor neuron diseases. The diagnosis was confirmed by muscular biopsy and genetic study.
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PMID:[An unusual cause of failure of weaning from mechanical ventilation in an infant]. 1719 31

Spinal muscular atrophy (SMA) is a neuromuscular autosomal recessive disease characterized by progressive muscle weakness and atrophy combined with motor neuron degeneration caused by mutations in the SMN 1 gene locus (5q11.2-13.2). Rett syndrome (RS) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2 (Xq28) and characterized by normal development until 6-12 months of age, followed by regression with loss of acquired skills, gradual onset of microcephaly, stereotypic hand movements and psychomotor delay. We report a 6-year-old girl who, at 2 years of age, presented with hypotonia, psychomotor delay, amyotrophy and areflexia of the lower extremities. Molecular DNA analysis (PCR-RFLP's) for SMA type II revealed that both exons 7 and 8 of SMN 1 gene were deleted. Over the past 4 years, onset of stereotypic hand-washing movements, epileptic seizures, microcephaly, hyperventilation/breath-holding attacks and severe psychomotor delay raised the suspicion of the coexistence of RS. DNA analysis (DGGE and sequencing) identified the hotspot missense mutation R306C (c.916C>T) in exon 4 of the MECP2 gene. The coinheritance of SMA and RS, two rare monogenic syndromes in the same patient, has not been previously reported. Thorough clinical evaluation in combination with DNA analysis, allowed accurate diagnosis, providing valuable information for the genetic counseling of the family.
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PMID:Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. 1727 11

Since 1992, Human Botulism Immune Globulin has been provided by the California Department of Health Services to infants with probable infant botulism, the intestinal toxemia form of human botulism. Human Botulism Immune Globulin became available in California in 1992-1997 within a randomized, controlled, double-blinded, pivotal clinical trial and subsequently became available nationwide in 1998-2003 in an open-label study until its licensure in October 2003 as BabyBIG. Thereafter, Human Botulism Immune Globulin remained available nationwide as an approved orphan-drug product. To achieve prompt neutralization of circulating botulinum toxin, the decision to treat with Human Botulism Immune Globulin has been based on clinical criteria that include a consistent history and physical findings of bulbar palsies, hypotonia, and weakness. After licensure, the charts of patients who did not have laboratory-confirmed infant botulism were reviewed to identify their actual diagnoses. The approximately 5% of 681 patients treated with Human Botulism Immune Globulin who did not have infant botulism fell into 5 categories: spinal muscular atrophy, metabolic disorders, other infectious diseases, miscellaneous, and probable infant botulism lacking laboratory confirmation.
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PMID:Clinical mimics of infant botulism. 1740 57

Diploid/triploid mosaicism is an uncommon malformation syndrome thought to result from incorporation of the second polar body into a blastomere nucleus of the developing embryo. Clinical manifestations include mental and growth retardation, truncal obesity, body asymmetry, hypotonia, syndactyly, clino-/camptodactyly, malformed low-set ears, and small phallus. Although muscular atrophy has been documented in 35% of cases of diploid/triploid mosaicism, to our knowledge histologic evidence of myopathy has not been reported. We present a novel case of diploid/triploid mosaicism with evidence of central core disease and nemaline bodies (rods). The histologic and ultrastructural features are described. A review of the literature is provided, including discussion of the various theories regarding the co-expression of central cores and nemaline rods.
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PMID:Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism. 1752 75

We describe the clinical features of 25 cases of Werdnig Hoffman's disease (spinal muscular atrophy (SMA) type I) seen propectively over a two-year period at the King Fahd Hospital of the University (KFHU), Al-Khobar. The hospital incidence rate was 1.93 per 1,000 live births (95% confidence limits, 0.80-3.06/1,000). The estimated prevalence rate for the community was 0.92/10,000 with 0.59-1.25 per 10,000 children as its 95% confidence limits. The male to female ratio was 2:3. Reduced fetal movements were reported by six mothers; 8 children (32%) had symptoms at birth, and 24 (96%) had symptoms by the time they were six months old. Other features apart from hypotonia, muscle weakness, and absent deep tendon reflexes included head lag with inability to achive head control at six months (88%), respiratory problems consisting of difficulty with breathing or frequent chest infections (44%), and difficulty with feeding (40%). Wasting with fisciculations of the tongue was seen in 64%. Death occurred within six months of presentation in 75% of the cases. The parents were consanguineous in 64% of the cases. This high consanguinity rate was probably the major cause for the high population prevalence rate.
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PMID:Werdnig Hoffman's disease (spinal muscular atrophy type I): A clinical study of 25 Saudi nationals in Al-Khobar. 1758 32

The objectives of our study were to determine the actual frequency of the different disorders causing neonatal hypotonia and to assess the reliability of the first physical examination as well as the contribution of the main standard diagnostic tests. One hundred and forty-four infants diagnosed with neonatal hypotonia between January 1st 1999 and June 30th 2005 in our tertiary care facility were retrospectively included in the study. Perinatal history, clinical type of hypotonia, results of standard diagnostic tests, final diagnosis and outcome were abstracted from the original charts. A final diagnosis was reached in 120 cases. Central (cerebral) causes represented 82% of the elucidated cases, mostly hypoxic and hemorrhagic lesions of the brain (34%), chromosomal aberrations and syndromic disorders (26%) and brain malformations (12%). Peripheral (neuromuscular) causes were mainly represented by spinal muscular atrophy (6%) and myotonic dystrophy (4%). Positive predictive value of the initial clinical examination was higher in central type hypotonia. Neuroimaging, karyotype analysis and DNA-based tests were the most helpful diagnostic tools. These recent clinical data can be used to improve our strategy in investigating neonatal hypotonia and a diagnostic algorithm is proposed based on our findings.
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PMID:Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates. 1764 14

To review the clinical and pathological characteristics of spinal muscular atrophy (SMA) in general and in particular regarding the ENT. SMA is relatively rare in the head and neck. Dysphagia is the main symptom. Retrospective review of 9 patients from the same family comprising the original patient, brothers, sister, and cousins with a diagnosis of SMA. Dysphagia and muscular hypotonia in upper members were the main presenting symptoms. The ENT exploration, oesophageal transit, electromyography, and genetic tests were necessary for the diagnosis. In our experience, the treatment of dysphagia in neurological diseases is poor as we have confirmed through a literature review. Thanks to rehabilitation units for swallowing and voice disorders, ENT specialists are involved in the treatment and training of these patients for a better quality of life.
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PMID:[Spinal muscular atrophy in the ENT area]. 1794 68

X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder presenting with the clinical features hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and infantile death. To identify the XL-SMA disease gene, we performed large-scale mutation analysis in genes located between markers DXS8080 and DXS7132 (Xp11.3-Xq11.1). This resulted in detection of three rare novel variants in exon 15 of UBE1 that segregate with disease: two missense mutations (c.1617 G-->T, p.Met539Ile; c.1639 A-->G, p.Ser547Gly) present each in one XL-SMA family, and one synonymous C-->T substitution (c.1731 C-->T, p.Asn577Asn) identified in another three unrelated families. Absence of the missense mutations was demonstrated for 3550 and absence of the synonymous mutation was shown in 7914 control X chromosomes; therefore, these results yielded statistical significant evidence for the association of the synonymous substitution and the two missense mutations with XL-SMA (p = 2.416 x 10(-10), p = 0.001815). We also demonstrated that the synonymous C-->T substitution leads to significant reduction of UBE1 expression and alters the methylation pattern of exon 15, implying a plausible role of this DNA element in developmental UBE1 expression in humans. Our observations indicate first that XL-SMA is part of a growing list of neurodegenerative disorders associated with defects in the ubiquitin-proteasome pathway and second that synonymous C-->T transitions might have the potential to affect gene expression.
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PMID:Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. 1817 98

Spinal muscular atrophy (SMA) is a relatively common, profoundly disabling and incurable disease that presents in early childhood with hypotonia, weakness and decreased movement. Without ventilatory support, premature death from respiratory insufficiency is universal in children with spinal muscular atrophy type 1 (SMA1). With mechanical ventilation, however, long-term survival in SMA1 has been reported from numerous international centres. Children kept alive by this means experience progressive paralysis and eventually become effectively 'locked in' on the ventilator, with no useful movements of the extremities, progressive facial and bulbar weakness, and complete inability to communicate. Prolongation of life by invasive ventilation in such cases is futile given the absence of curative treatments for infants with SMA1, and overly burdensome given the unacceptable quality of life of such children.
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PMID:The use of invasive ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion against. 1828 Sep 79

Macrophagic myofasciitis is a novel, "inflammatory myopathy" described after a variety of vaccinations, almost exclusively in adults. We examined the relevance of histological findings of this myopathy to the clinical presentation in pediatric patients. Muscle biopsies from 8 children (7 months to 6 years old) with histological features of macrophagic myofasciitis were reviewed and correlated with the clinical manifestations. Patients underwent quadriceps muscle biopsy for suspected mitochondrial disease (4 patients), spinal muscular atrophy (2 patients), myoglobinuria (1 patient), and hypotonia with motor delay (1 patient). All biopsies showed identical granulomas composed of periodic acid-Schiff-positive and CD68-positive macrophages. Characteristic aluminum hydroxide crystals were identified by electron microscopy in 2 cases. The biopsy established diagnoses other than macrophagic myofasciitis in 5 patients: spinal muscular atrophy (2), Duchenne muscular dystrophy (1), phospho-glycerate kinase deficiency (1), and cytochrome c oxidase deficiency (1). Three children with manifestations and/or a family history of mitochondrial disease had otherwise morphologically normal muscle. All children had routine vaccinations between 2 months and 1 year before the biopsy, with up to 11 intramuscular injections, including the biopsy sites. There was no correlation between histological findings of macrophagic myofasciitis in biopsies and the clinical symptoms. We believe that macrophagic myofasciitis represents a localized histological hallmark of previous immunization with the aluminum hydroxide adjuvants contained in vaccines, rather than a primary or distinct inflammatory muscle disease.
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PMID:Macrophagic myofasciitis in children is a localized reaction to vaccination. 1828 24


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