Axial Hypotonia Causes & Reasons

Neu starten

Ad Html Headline Ad Text Headline

Ad Label Ad Html Description Ad Text Description

Determine your risk of now. Restart test

Caution! In case of an emergency:

Seek emergency care

Caution! In case of an emergency: Seek emergency care

Hi, I'm Symptoma.

Axial Hypotonia Symptom Checker: Possible causes include Aromatic L-Amino Acid Decarboxylase Deficiency. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

For full functionality of this site it is necessary to enable JavaScript.

How to enable JavaScript?

Possible Causes

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

Propionic Acidemia

Neurological examination revealed axial hypotonia, severe spastic tetraparesis and extrapyramidal syndrome with numerous opisthotonos episodes daily. [kundoc.com]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show 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]

Show info

Heelspur

Show info

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]

Show info

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]

Musculoskeletal abnormalities manifesting in this syndrome are scoliosis, small hands, rib and vertebral anomalies, axial hypotonias and limb hypertonias. [symptoma.com]

Many affected children also have microcephaly (small head), axial hypotonia (decreased muscle tone), and appendicular hypertonia with spasticity on neurological examination [bcm.edu]

Show info

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]

Show info

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]

Show info

Isolated Complex I Deficiency

Neurological examination revealed axial hypotonia, mild ataxia and pyramidal signs. [ncbi.nlm.nih.gov]

Show info

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]

Show info

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]

Show info

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]

Show info

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]

Show info

Psychomotor Retardation

All 4 patients presented with typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased [ncbi.nlm.nih.gov]

Show info

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]

Show info

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]

Show info

Pilomyxoid Astrocytoma

Neurological examination was significant for axial hypotonia. [casereports.bmj.com]

Show info

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]

Show info

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]

Show info

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]

Show info

⚕ Symptoma®️ is a digital health assistant but no replacement for the opinion and judgement of medical professionals. By using this website you fully understand and accept that it shall not be used as a diagnostic system for decision-making. It absolutely must not be used to obtain, replace or overrule a clinical diagnosis by a healthcare professional. It is always for the medical professional to make the final diagnosis. The medical information provided on this website is of a general nature and can not substitute for the advice of a medical professional (for example, a qualified doctor or physician)! Information from the internet could and should NOT be solely used to offer or render a medical opinion or otherwise engage in the practice of medicine.