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)

A boy with nonreducible bilateral congenital talipes equinovarus had delayed milestones with early-onset generalized hypotonia and muscular weakness. The condition remained stable until he was 8 years old. A slow worsening of motor abilities, with myopathic signs, was observed thereafter. A homozygous deletion of exons 7 and 8 of the survival of motor neuron 1, telomeric (SMN1) gene was found, without neuronal apoptosis inhibitory protein (NAIP) gene deletion, leading to the diagnosis of spinal muscular atrophy. Independent ambulation was lost when he was 13 years old. The occurrence of congenital clubfoot with early onset of neurologic signs, but with a very slowly progressive course, has not been reported in spinal muscular atrophy until now.
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PMID:Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion. 1511 81

Werdnig-Hoffmann Disease: Report of the first case clinically identified and genetically confirmed in Central Africa (Kinshasa-Congo): Type 1 spinal muscular atrophy (SMA1) or Werdnig-Hoffman disease is rarely described in black populations. We report on one black patient diagnosed in Kinshasa. This patient was referred to Paediatric consultation at the age of 5 months 1/2 with extreme hypotonia progressing since birth, severe muscular weakness in his trunk and proximal parts of the extremities, ASD type II, and repeated episodes of pulmonary infections. He died of severe respiratory failure at the age of 10 months. EMG analysis revealed motor neuron a defect without nerve conduction anomaly, suggesting the diagnosis of spinal muscular atrophy disease. The diagnosis of SMA1 was definitely confirmed by a quantitative PCR-based testing that demonstrated homozygous deletion of SMN1, the primary disease-causing gene for spinal muscular atrophy, while two normal SMN2 alleles were present. There was a history of similar clinical symptomatology in a patient's older brother, suggesting a familial involvement. To the best of our knowledge, this is the first documented Werdnig-Hoffman case ever reported from Central Africa people.
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PMID:Werdnig-Hoffmann disease: report of the first case clinically identified and genetically confirmed in central Africa (Kinshasa-Congo). 2016 70

We report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. The child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation of the tongue, and severe respiratory muscle involvement. She remained in an intensive care unit with an assisted ventilation system from the fourth month of life. She died at 3 years of age from pulmonary infection. Molecular analysis confirmed the diagnosis of SMA but revealed that only the father was an asymptomatic carrier. Because SMN1 is mapped in a complex region containing repetitive elements due to an inverted duplication of approximately 500 kb, we carry out an SNP array and detected a 1.3 Mb deletion including the SMN1 and SMN2 genes that explain the disease.
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PMID:Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling. 2345 57