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 6-week-old girl presenting with severe weakness, hypotonia, gastroesophageal reflux, and microcephaly as well as dysmorphic features including micrognathia and high arched palate was also found to have pontocerebellar hypoplasia. She died of acute pneumonia at age 6 months. Her younger brother also had generalized hypotonia, weakness, areflexia, and tongue fasciculations and was also noted to have pontocerebellar hypoplasia revealed by brain magnetic resonance imaging. We herein briefly review familial spinal muscular atrophy with type 1 pontocerebellar hypoplasia in children.
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PMID:Hypotonia, weakness, and pontocerebellar hypoplasia in siblings. 1907 13

Floppiness/hypotonia is a common neurologic symptom in infancy. A variety of neuromuscular disorders and central nervous system (CNS) disorders cause floppy infant syndrome (FIS). CNS disorders are the much more common causes of the syndrome than neuromuscular disorders. On long-term follow up, cerebral palsy and mental retardation turn out to be the 2 most common causes of FIS. This review focuses on neuromuscular causes of FIS. With the advent of molecular diagnosis, a few conditions can be diagnosed by DNA analysis of the peripheral lymphocytes (myotonic dystrophy, spinal muscular atrophy); however, for the most part, electrodiagnostic studies and muscle biopsy remain as essential diagnostic tools for FIS. Immunohistochemical study of the biopsied muscle also improves diagnostic capability. Management for most conditions remains supportive.
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PMID:Floppy infant syndrome. 1907 54

Unbalanced chromosomal abnormalities are frequent and account for about 10% of all chromosomal abnormalities identified in live births. Diagnosis of a coinherited neuromuscular genetic disorder in these individuals is often challenging based on the severity and variability of the phenotype resulting from the genomic imbalance. Herein, we report on a 4-month-old male with multiple congenital anomalies, craniosynostosis, dysmorphic features, and hypotonia. Karyotype analysis revealed an abnormal male karyotype: 46,XY,der(3)(3;7)(p25;q36), with partial monosomy of 3pter and partial trisomy of 7qter. The targeted array-based comparative genomic hybridization (array-CGH) validated the cytogenetic abnormality, with further elucidation of trisomy of the Sonic Hedgehog (SHH) locus on chromosome 7. Based on the severity of hypotonia in this infant, molecular analysis for spinal muscular atrophy (SMA) was performed and the common homozygous deletion of exon 7 in the survival of motor neuron 1 gene (SMN1) was identified. This case demonstrates the challenges in diagnoses of coexisting genetic disorders in infants with neuromuscular disease. A high index of suspicion in such cases is essential for appropriate case management and family risk assessment.
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PMID:Coexistence of an unbalanced chromosomal rearrangement and spinal muscular atrophy in an infant with multiple congenital anomalies. 1921 52

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

Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy, and we have identified homozygous or compound heterozygous mutations in the gene encoding choline kinase beta (CHKB). This is the first enzymatic step in a biosynthetic pathway for phosphatidylcholine, the most abundant phospholipid in eukaryotes. In muscle of three affected individuals with nonsense mutations, choline kinase activities were undetectable, and phosphatidylcholine levels were decreased. We identified the human disease caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the pivotal role of phosphatidylcholine in muscle and brain.
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PMID:A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. 2166 2

Spinal muscular atrophy (SMA) is an autosomal recessive anterior horn cell disease that results in progressive muscular weakness and atrophy without sensory involvement. A wide clinical spectrum that ranges from early death to essentially normal adult live exists. We describe a case of two 12 years olds, who represent two of three surviving non-identical quadruplets, born at 25 weeks gestational age. A diagnosis of hypotonic cerebral palsy (CP) was made in early childhood and early intervention services were initiated. At 3 years of age, MRI's showed white matter changes. Both briefly attained Gross Motor Functional Classification Scale (GMFCS) 3 status, but by 12 years of age their ambulatory abilities had decreased to Level 4. Physical Medicine and Rehabilitation (PM&R) physicians were consulted. On exam, distal lower extremities atrophy, hypotonia, hyporeflexia, and muscle weakness were noted. Neither child had upper motor neuron signs or spasticity. Cognition was normal. Neuromuscular disorder was suspected and genetic testing confirmed spinal muscular atrophy in both patients. While prior MRI/CT demonstrated static encephalopathy, recognition of symptoms and signs consistent with neuromuscular disease should have led to a secondary diagnosis. Therapeutic and surgical treatment decisions may have differed. Fragmentation of care and lack of a comprehensive team approach also contributed to the delay in recognition of their dual diagnosis.
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PMID:Cerebral palsy masking spinal muscular atrophy. 2179 63

The patient was a 2-month-old female infant born at 41 weeks and 2 days of gestation presenting multiple arthrogryposis, severe muscle hypotonia and respiratory distress with difficulty in feeding. She suffered from repeated complications with aspiration pneumonia. On admission to our hospital, she exhibited fasciculation and absence of deep tendon reflexes. Examination of the motor nerve conduction velocity (MCV) revealed no muscle contraction. Deletions of the SMN and NAIP genes were noted. Based on severe clinical course and disease development in utero, she was given a diagnosis of spinal muscular atrophy (SMA) type 0 (very severe type). Arthrogryposis and disappearance of MCV are exclusion criteria for SMA. However, the clinical course of the infant was very severe and included such exclusion items. Consequently, when an infant presents muscle hypotonia and respiratory distress, SMA must be considered as one of the differential diagnoses, even though arthrogryposis is an exclusion criterion for SMA. We discuss this case in relation to the few extant reports on SMA type 0 in Japanese infants in the literature.
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PMID:[A case of spinal muscular atrophy type 0 in Japan]. 2301 68

A 12-year-old female child with motor developmental delay presented with persistent vomiting, recurrent falls and unsteadiness in dark since 2 years of age. There was decline in scholastic performance, bulbar symptoms and aggravation of symptoms during intercurrent illness. Clinically, she had frontal and parietal lobar dysfunction, dysarthria, optic atrophy and LMN VII, IX, X, XII cranial nerve involvement. There was generalized hypotonia, distal muscle wasting, weakness, cerebellar signs and impaired vibration/position sense in distal extremities. Biochemical investigations revealed elevated serum/cerebrospinal fluid (CSF) lactate and CSF lactate pyruvate ratio. Neuroimaging demonstrated bilateral symmetrical T2 hyperintensities in basal ganglia, subcortical white matter, cerebellar hemispheres and posterior aspect of spinal cord. As certain atypical features like bilateral symmetrical T2 hyperintensities in subcortical white matter were also seen, metachromatic leukodystrophy was considered in differential diagnosis but ruled out by nerve biopsy. This case is reported for the presence of atypical neuroimaging features that are rarely found in Leigh's disease.
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PMID:An interesting case of Leigh-like syndrome. 2334 1

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

Mutations in the serine palmitoyltransferase subunit 1 (SPTLC1) gene are the most common cause of hereditary sensory neuropathy type 1 (HSN1). Here we report the clinical and molecular consequences of a particular mutation (p.S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint hypermobility, bilateral cataracts and considerable growth retardation. Normal plasma sphingolipids were unchanged but 1-deoxy-sphingolipids were significantly elevated. In contrast to other HSN patients reported so far, our findings strongly indicate that mutations at amino acid position Ser331 of the SPTLC1 gene lead to a distinct syndrome.
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PMID:Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. 2345 72


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