ライフサイエンスコーパス: hypotonia

1 ntract during REM sleep, despite generalized hypotonia.

2 ere action dystonia superimposed on baseline hypotonia.

3 at present with skeletal muscle weakness and hypotonia.

4 pharyngeal insufficiency and skeletal muscle hypotonia.

5 its collapsibility during periods of muscle hypotonia.

6 birth (5/5), congenital cataracts (4/5), and hypotonia (4/5).

7 arting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasti

8 arge anterior fontanelle (100%), motor delay/hypotonia (92%), moderate to severe mental retardation (

9 types, including neuronal migration defects, hypotonia, a developmental delay, and neonatal lethality

10 PWS is characterized by severe hypotonia, a failure to thrive in infancy and, on emergi

11 uscular disorder manifesting as weakness and hypotonia across a broad spectrum of severity.

12 ion show symptoms of ADHD, sleep disruption, hypotonia, aggression, ASD, and ID.

13 chromosome showed severe growth retardation, hypotonia and approximately 80% lethality before weaning

14 motor retardation, language delay, seizures, hypotonia and ataxia.

15 hree families with USP9X variants identified hypotonia and behavioral and morphological defects as co

16 is of mitochondrial disease in newborns with hypotonia and cardiomyopathy.

17 with global developmental delay, generalized hypotonia and cerebellar ataxia.

18 y mental retardation, relative macrocephaly, hypotonia and constipation.

19 te, poor feeding with an uncoordinated suck, hypotonia and decreased movement.

20 nifests with an array of phenotypes, such as hypotonia and difficulties in feeding during infancy and

21 ar myopathy), which promotes severe neonatal hypotonia and early death.

22 cterized by neonatal respiratory depression, hypotonia and failure to thrive in infancy, followed by

23 velo-pharyngeal insufficiency, facial muscle hypotonia and feeding difficulties, in part due to hypop

24 resentation was mainly neonatal, with marked hypotonia and feeding difficulties.

25 severe congenital disorder characterized by hypotonia and generalized muscle weakness in newborn mal

26 t this approach could be used to reduce both hypotonia and hypertonia.

27 eakness were far more significant than their hypotonia and limb weakness and were accompanied by an u

28 of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hip

29 s characterized by congenital or early-onset hypotonia and muscle weakness, and specific pathological

30 muscular diseases with neonatal or childhood hypotonia and muscle weakness.

31 All 4 siblings were affected by hypotonia and prominent neck weakness in infancy, early

32 n congenital myopathy characterized by fetal hypotonia and proximal muscle weakness that is linked to

33 urodevelopmental disorder that presents with hypotonia and respiratory distress in neonates.

34 A wide spectrum of disease exists from hypotonia and severe cardiac hypertrophy in the first fe

35 -recessive condition characterized mainly by hypotonia and severe intellectual disability.

36 es, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, a

37 She developed progressive muscular hypotonia and ventilatory failure.

38 ses that typically present in childhood with hypotonia and weakness and are most commonly defined by

39 ases had marked congenital or neonatal-onset hypotonia and weakness associated with mild-to-moderate

40 es are hereditary disorders characterized by hypotonia and weakness from birth with variable eye and

41 steoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder.

42 bnormal breathing and eye movements, ataxia, hypotonia, and cognitive difficulty, and they display mi

43 ects manifested early-onset lactic acidemia, hypotonia, and developmental delay caused by severe ence

44 vus flammeus, neonatal feeding difficulties, hypotonia, and developmental disabilities.

45 rom Japan) who show intellectual disability, hypotonia, and early-onset seizures.

46 degenerative disorder resulting in seizures, hypotonia, and failure to thrive, is due to inherited lo

47 ngenital contractures of the limbs and face, hypotonia, and global developmental delay had resulted i

48 ALR that led to cataract, progressive muscle hypotonia, and hearing loss in three children.

49 d intrauterine growth restriction, infantile hypotonia, and irritability, followed by failure to thri

50 ore phenotype of intellectual disability and hypotonia, and many had seizures and showed brain atroph

51 cans, moderate motor delay, lethargy, severe hypotonia, and modest lactic acidosis.

52 with profound developmental retardation and hypotonia, and most experienced seizures.

53 n becomes markedly flattened, accompanied by hypotonia, and motor and sensory loss.

54 d neuronal apoptosis, a developmental delay, hypotonia, and neonatal lethality.

55 abnormality, developmental delay, infantile hypotonia, and obesity.

56 atients with developmental delays with axial hypotonia, and patients with unexplained or atypical pre

57 by muscular weakness of proximal dominance, hypotonia, and respiratory insufficiency but typically n

58 , intellectual disability, gastric problems, hypotonia, and seizures in nine individuals from six fam

59 ntal delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted dele

60 midface hypoplasia, trident hands, muscular hypotonia, and thoracolumbar kyphosis.

61 acteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male

62 t role of GNB5 in the control of heart rate, hypotonia, and vision.

63 omic ID with ptosis, growth retardation, and hypotonia, and we identified an inherited 2 bp deletion

64 ory stridor, ventilator failure, progressive hypotonia, and weakness, leading to death.

65 osomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellect

66 neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable

67 opmental delay, prominent language deficits, hypotonia, ataxia, hyporeflexia, and seizures.

68 be ruled out in all patients presenting with hypotonia, ataxia, nystagmus, breathing abnormalities an

69 evelopmental delay, intellectual disability, hypotonia, ataxia, nystagmus.

70 intellectual disability with absent speech, hypotonia, brachycephaly, congenital heart defects, and

71 unrelated individuals presented with severe hypotonia, bradycardia, respiratory insufficiency, and h

72 problems (ASD, ADHD, and anxiety disorders), hypotonia, broad-based gait, facial dysmorphisms, and pe

73 is a developmental disorder characterized by hypotonia, cataracts, abnormal ossification, impaired mo

74 ehavioral disorder characterized by neonatal hypotonia, childhood obesity, dysmorphic features, hypog

75 , genetic studies of patients suffering from hypotonia-cystinuria syndrome (HCS) have revealed a dele

76 deficiencies, yet most patients have muscle hypotonia, delayed ambulation, or kyphosis, pointing to

77 Irreversible, visually significant hypotonia developed in one eye.

78 genome-wide studies found that patients with hypotonia, developmental delay, intellectual disability,

79 with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning of the corpus c

80 lobal developmental delay, feeding problems, hypotonia, dysmorphic features, profound speech delays a

81 is and clinical symptoms of AADC deficiency (hypotonia, dystonia, and oculogyric crisis), who were ol

82 most cases, motor and language delays, axial hypotonia, dystonia, weakness, oculogyric crises, and di

83 Other features included hypotonia early in life and delay in walking.

84 y with two siblings affected with congenital hypotonia early-onset glaucoma, and psychomotor delays.

85 s presented with global developmental delay, hypotonia, early-onset seizures, cerebellar atrophy, and

86 letion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and

87 truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe in

88 viduals with mild to severe ID, long-lasting hypotonia, epileptic susceptibility, frontal bossing, mi

89 om those seen with SMS and include infantile hypotonia, failure to thrive, mental retardation, autist

90 PTLS is characterized by hypotonia, failure to thrive, reduced body weight, intel

91 who presented at birth with lactic acidosis, hypotonia, feeding difficulties, and deafness.

92 Hypotonia gives way in adult life to spasticity.

93 Symptoms include infantile hypotonia, global developmental delay, intellectual disa

94 an aged appearance, craniofacial anomalies, hypotonia, global developmental delays, cryptorchidism,

95 opmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feedi

96 cy, who was clinically characterized by mild hypotonia, growth retardation, and delayed motor milesto

97 mic imprinting, is characterized by neonatal hypotonia, hypogonadism, small hands and feet, hyperphag

98 ced TBX1 levels may contribute to pharyngeal hypotonia in del22q11.2 patients.

99 ongenital centronuclear myopathy with severe hypotonia in dogs.

100 tonia but the early picture was dominated by hypotonia in five.

101 eutralization of D292 is connected to muscle hypotonia in individuals with D292V actin mutations and

102 disorders are common causes of weakness and hypotonia in the infantile period and in childhood.

103 The common phenotype includes hypotonia, intellectual disability, early feeding and or

104 families both show neurologic abnormalities, hypotonia, intellectual disability, failure to thrive an

105 be four probands, all of whom presented with hypotonia, intellectual disability, global developmental

106 etic resonance imaging), mental retardation, hypotonia, irregular breathing pattern, and eye-movement

107 The pathogenesis of hypotonia is discussed.

108 and by the observation of episodes of facial hypotonia, jaw drop, and ptosis.

109 lay maximally involving expressive language, hypotonia, mental retardation, ataxia, and behavioral pr

110 resented at 7 days of age with poor feeding, hypotonia, methylmalonic aciduria, and elevated plasma h

111 ge and developed severe developmental delay, hypotonia, microcephaly, seizures, progressive cortical

112 with ID and various other features including hypotonia, movement disorders, behavior problems, corpus

113 zed by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cereb

114 ardation/developmental delay, absent speech, hypotonia, nonprogressive ataxia, features of autism or

115 ndings include other craniofacial anomalies, hypotonia, obstructive apnea, foot deformity, and congen

116 aracterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and mental retardation.

117 asia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dy

118 y agenesis of the cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing abnorm

119 Complications included temporary hypotonia of 2 weeks or less (2 [22%]), temporary epithe

120 ore phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertr

121 t includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea,

122 uctuation, are nonspecific and mimic CP with hypotonia or dystonia.

123 developmental delay, speech defects, severe hypotonia, pathological gastro-esophageal reflux, retina

124 been effective methods to reverse pharyngeal hypotonia pharmacologically in sleeping humans.

125 including intellectual disability, childhood hypotonia, progressive spasticity of lower limbs, and ab

126 ects presenting with early-onset generalized hypotonia, psychomotor delay, refractory epilepsy, and e

127 ataxia, dysarthria, gross motor regression, hypotonia, ptosis and ophthalmoplegia and had abnormal s

128 y of 2(nd) and 3(rd) toes, and severe muscle hypotonia resulting in incapacity to stand without suppo

129 ation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS.

130 ted with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three fa

131 ivating Ca(2+), which could help explain the hypotonia seen in NM.

132 currently seen in these individuals included hypotonia, seizures, behavioral problems, structural CNS

133 by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requir

134 elopmental delays/intellectual disabilities, hypotonia, seizures, neuropathy, and metabolic abnormali

135 ition known as multiple congenital anomalies-hypotonia-seizures syndrome 2.

136 m often characterized by mental retardation, hypotonia, sensorineural hearing loss, optic atrophy, an

137 WS), most notably characterized by infantile hypotonia, short stature and morbid obesity, results fro

138 PBDs are characterized by leukodystrophy, hypotonia, SNHL, retinopathy, and skeletal, craniofacial

139 ncluding global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rot

140 evelopmental delay but without macrocephaly, hypotonia, spasticity, or seizures.

141 evelopmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing l

142 l disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic feat

143 ntellectual disability, developmental delay, hypotonia, strabismus, cerebellar atrophy, and variable

144 seen in these individuals include congenital hypotonia, structural CNS malformations, ataxia, and gen

145 subject with micrognathia, cleft palate and hypotonia that harbored a de novo, balanced chromosomal

146 hy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microce

147 antenatal form of arthrogryposis and severe hypotonia to a neonatal form of CMS with episodic apnea

148 disability with absent speech, epilepsy, and hypotonia was observed in all affected individuals.

149 Many patients also suffer from hypotonia (weak and flaccid muscles) and balance problem

150 Allan-Herndon-Dudley syndrome are marked by hypotonia, weakness, reduced muscle mass, and delay of d

151 and increases in nasal pressure (PN) produce hypotonia, which persists even after nasal pressure is a

152 e epilepsy, progressive microcephaly, severe hypotonia with elevated blood creatine kinase levels, an

153 -function mutations of NALCN cause infantile hypotonia with psychomotor retardation and characteristi

154 isability, hyperkinetic movements, and axial hypotonia with variable appendicular spasticity.