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]
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]
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]
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]
Histiocytoid Cardiomyopathy
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]