Possible Causes for axial hypotonia Aromatic L-Amino Acid Decarboxylase Deficiency Characteristic features included axial hypotonia, hypokinesia, and athetosis, with superimposed episodes of ocular convergence spasm, oculogyric crises, dystonia, and limb [ncbi.nlm.nih.gov] The presentation of symptoms is variable and there are variable degrees of severity Neonatal Period Feeding difficulties Autonomic dysfunction Hypotonia Motor symptoms Axial [aadcresearch.org] hypotonia (decreased tone or floppy - trunk, head and limbs) Limb hypertonia (increased tone to the limbs) Fluctuating limb tone Hypokinesia (decreased spontaneous movements [aadcresearch.org] Hypomyelinating Leukodystrophy Type 5 In severe cases, children fail to achieve motor milestones and linguistic development, and show profound axial hypotonia. [clinicalgate.com] These infants show axial hypotonia with difficult head control, titubation, exaggerated tendon reflexes, and a combination of ataxia and extrapyramidal features. [clinicalgate.com] Warburg Micro Syndrome 3 hypotonia, hypotonic upper limbs, hypertonic lower limbs with contractures, myoclonic seizures, and hypoplastic labia minora and clitoral hypoplasia. [bio2rdf.org] The clinical picture evolved to a spastic tetraparesis with axial hypotonia and limbs dystonic movement disorder. He had dysphagia and severe intellectual disability. [omicsonline.org] Additional systemic manifestations included axial hypotonia with evolving limb spasticity, and occasional seizures. [iamg.in] Congenital Hypothyroidism without Goiter In two generations its presence was detected in the hemizygous state in two males with neurological abnormalities including mental retardation, axial hypotonia, hypertonia [ncbi.nlm.nih.gov] This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic paraplegia, and a typical thyroid hormone profile. [ncbi.nlm.nih.gov] He presents mental retardation, axial hypotonia, hypertonia of arms and legs, paroxysmal dyskinesias, seizures. [ncbi.nlm.nih.gov] Amish Lethal Microcephaly […] hand Hypertrophic cardiomyopathy Weakness of the intrinsic hand muscles Hepatic steatosis Limb joint contracture Hypoventilation Shoulder girdle muscle weakness Central hypotonia [mendelian.co] Abnormal posturing Biventricular hypertrophy Reduced ejection fraction Persistent lactic acidosis Hand muscle weakness Delayed speech and language development Wide nasal bridge Axial [mendelian.co] Severe Neonatal-Onset Encephalopathy with Microcephaly Fig. 3 a - c, Axial T2-weighted MR images of a 5-day-old male term neonate with genetically confirmed Pelizaeus-Merzbacher disease presenting with marked muscular hypotonia [cerebellumandataxias.biomedcentral.com] Propionic Acidemia Neurological examination revealed axial hypotonia, severe spastic tetraparesis and extrapyramidal syndrome with numerous opisthotonos episodes daily. [kundoc.com] Cerebro-Oculo-Facio-Skeletal Syndrome Type 1 They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties [ncbi.nlm.nih.gov] Familial Cardiac Lipidosis At birth, clinical examination revealed a systolic cardiac murmur, an axial hypotonia, linear cutaneous erythematous lesions of the face and the neck typical of the microphthalmia [revespcardiol.org] Adult Krabbe Disease R184C ( c.550C T ) 13 F 4 months 11 months Regression, mild axial hypotonia, hypertonia of the extremities, opisthotonus, CSF protein, abnormal MRI – 0.0 380 p.I250T (c.749T [ncbi.nlm.nih.gov] hypotonia, CSF protein level – 0.0 – – 4 M 6 months 8 months Psychomotor regression, hypotonia, CSF protein level, normal brain CT scan – 0.0 34 – 5 M 5 months 5.5 months [ncbi.nlm.nih.gov] […] hom p.R184C ( c.550C T ) 2 M Unknown 4 months Seizures, irritability, feeding difficulties CSF protein level – 0.03 23 – 3 F 6 months 10 months Psychomotor retardation, axial [ncbi.nlm.nih.gov] Pyruvate Carboxylase Deficiency Abstract A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. [ncbi.nlm.nih.gov] RESULTS: All patients had axial hypotonia and tachypnea during the first hours of life. The initial level of consciousness was preserved in most patients. [ncbi.nlm.nih.gov] Neonates have axial hypotonia and tachypnoea during the first hours of life. [ 4 ] Other features which may be seen with this disorder include: Failure to thrive. [patient.info] Glutaric Aciduria Examination revealed mild axial hypotonia without encephalopathy. Video-EEG monitoring revealed hypsarrhythmia and infantile spasms (figure, A). [ncbi.nlm.nih.gov] hypotonia. [ncbi.nlm.nih.gov] Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric dystonic posturing of neck, trunk, and extremities. [n.neurology.org] Metabolic Syndrome We report on a consanguineous Lebanese family where two sibs had an axial hypotonia, developmental delay, hirsutism, large fontanels with delayed closure, and dysmorphic facial [ncbi.nlm.nih.gov] Heelspur At birth, clinical examination revealed a systolic cardiac murmur, an axial hypotonia, linear cutaneous erythematous lesions of the face and the neck typical of the microphthalmia [revespcardiol.org] 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Reducing the L-dopa dose led to severe axial hypotonia and limb dystonia, and increasing it led to florid abnormal movements and behavioral disorders. [ncbi.nlm.nih.gov] Examination showed irritability, axial hypotonia, spastic tetraparesis, dystonia, oculogyre crisis and increased sweating. [oatext.com] Carbamoyl Phosphate Synthetase Deficiency Manifestations include hyperammonemia with irritability, lethargy, headache, seizures, confusion, avoidance of high-protein meals, axial hypotonia and cognitive disability [orpha.net] Motion Sickness English Neurological disorders (such as cerebellar symptoms, diplopia, lateral nystagmus, psychomotor slowdown, hand movements and axial hypotonia) have been observed in children [mymemory.translated.net] Isolated Complex I Deficiency Neurological examination revealed axial hypotonia, mild ataxia and pyramidal signs. [ncbi.nlm.nih.gov] Aicardi's Syndrome Other features of Aicardi syndrome may include a small head (microcephaly), decreased muscle tone (axial hypotonia), missing eyes (anophthalmia), gastrointestinal difficulties [diseaseinfosearch.org] Many affected children also have microcephaly (small head), axial hypotonia (decreased muscle tone), and appendicular hypertonia with spasticity on neurological examination [bcm.edu] Musculoskeletal abnormalities manifesting in this syndrome are scoliosis, small hands, rib and vertebral anomalies, axial hypotonias and limb hypertonias. [symptoma.com] Familial Dyskinesia and Facial Myokymia Axial hypotonia, impaired upward saccades, and intellectual disability were variable features. The p.R418G and p.R418Q mutation patients had a milder phenotype. [foundationdystoniaresearch.org] In more severe patients axial hypotonia, limb hypertonia, paroxysmal nocturnal or diurnal dyskynesia and delayed motor development may also appear. [bredagenetics.com] It has also been reported that disturbed sleep and axial hypotonia are frequently found in ADCY5 cases [ 5, 12 ]. [link.springer.com] Anterior Cerebral Artery Occlusion These cases attributed the deficit to hypotonia of the paravertebral muscles secondary to strokes involving the primary motor cortex on the precentral gyrus.[13] Other motor [ncbi.nlm.nih.gov] […] phenomenon of ACA infarction attributed to damage of both the corticopontine fibers and lower limb strip.[12] There are three patient case reports of isolated unilateral axial [ncbi.nlm.nih.gov] Deficiency of Sulfite Oxidase When he was 49 days of age, he continued with poor neurological outcome: flexed limb posture, weak cry, thumb in fist posture, axial hypotonia, incomplete moro and poor suck [docksci.com] All patients presented with neurological abnormalities, such as neonatal axial hypotonia and/or peripheral hypertonia (100%), (pharmacoresistant) seizures (84%), or developmental [springermedizin.de] Lissencephaly Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. [ncbi.nlm.nih.gov] Clinical and neurological examination identified microcephaly, lack of visual contact, axial hypotonia, pyramidal signs and ambiguous genitalia (impalpable gonads, phallus [scielo.br] Axial hypotonia Autism Sleep disorders Mental and motor skills of children suffering from this disorder are usually slow. [bredagenetics.com] Crigler-Najjar Syndrome Type 1 Upon physical examination the patient was active, reactive, and jaundiced, with mild axial hypotonia. [revistaseletronicas.pucrs.br] Save jaundice and mild axial hypotonia, physical examination proved normal. [nature.com] Epilepsy She was found to have mild axial hypotonia as an infant. She first walked at age 15 months. She had feeding problems in infancy. [dx.doi.org] Pilomyxoid Astrocytoma Neurological examination was significant for axial hypotonia. [casereports.bmj.com] Congenital Disease In addition, infants are ataxic, exhibit axial hypotonia, and have skeletal abnormalities consisting of long limbs and short torsos. [themedicalbiochemistrypage.org] Severe axial ataxia and hypotonia precluded unaided walking. The few single words already gained were lost from the third year of life ( 49, 50 ). [nature.com] Patients have frequent seizures, psychomotor retardation that is milder than in CDG-Ia, pronounced axial hypotonia, and strabismus. [themedicalbiochemistrypage.org] Congenital Non-Progressive Ataxia hypotonia, developmental delay, and mild mental retardation. [en.wikipedia.org] Two patients had peripheral hypertonia in combination with axial hypotonia. [jmg.bmj.com] […] anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation.Neurological signs are nystagmus, mild craniofacial asymmetry, axial [en.wikipedia.org] Pallidopyramidal Syndrome […] disturbances (due to ataxia or postural instability).[27] The axial hypotonia is unique to this variant of PLAN and is not seen in other variants. [annalsofian.org] It accounts for 85% of the PLAN cases.[26] The onset of disease is between 6 months and 2 years of age, with axial hypotonia, psychomotor retardation which progresses to gait [annalsofian.org] Diomedi-Bernardi-Placidi Syndrome Axial hypotonia is present from early infancy and most patients have muscle weakness and atrophy. [disorders.eyes.arizona.edu] Muscle tone in the limbs is increased and children often exhibit dyskinesia, dystonia, and axial hypotonia. General muscle weakness is often present. [disorders.eyes.arizona.edu] Other later signs are axial hypotonia, abnormal movements such as tremor, spasticity, hyperkinetic movements, dystonia with eventual regression of milestones. [disorders.eyes.arizona.edu]
