Generalized Hypotonia: Causes & Reasons

Possible Causes for Generalized Hypotonia

Aromatic L-Amino Acid Decarboxylase Deficiency

Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone). [rarediseases.oscar.ncsu.edu]

Of 12 patients enrolled, clinical presentations included global developmental delay with generalized hypotonia in 12 (100%), dystonia in 12 (100%), oculogyric crisis in 12 [ncbi.nlm.nih.gov]

hypotonia Pain Ptosis Feeding difficulties Motor delay Hyperreflexia Fatigue Hypoplasia of the corpus callosum And another 43 symptoms. [mendelian.co]

Chromosome 22q13.3 Deletion Syndrome

Although the range and severity of symptoms may vary, PMS is generally characterized by neonatal hypotonia (low muscle tone in the newborn), intellectual disability of varying [rarediseases.org]

Mosaic Variegated Aneuploidy Syndrome Type 1

Most have a generalized pigmentary dysplasia which may be evident with a Wood's lamp only. [typeset.io]

In infancy, the facial appearance becomes "coarse," hypotonia persists, and seizures may occur. [typeset.io]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

Abstract A 1-month-old Japanese girl had profound generalized weakness, hypotonia, and severe lactic acidosis. [ncbi.nlm.nih.gov]

At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. [unboundmedicine.com]

[…] weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. [semanticscholar.org]

Rigid Spine Syndrome

Examination revealed generalized hypotonia, long facies and contractures. Reflexes were diminished. [bioline.org.br]

NEMALINE MYOPATHY 3; NEM3 Is also known as ;actin myopathy Related symptoms: Autosomal recessive inheritance Autosomal dominant inheritance Generalized hypotonia Pica Scoliosis [mendelian.co]

Both, seen at ages 9- and 10-years, presented with delays in motor development milestones, generalized hypotonia, muscle weakness, which was more at the proximal than at distal [cags.org.ae]

Autosomal Recessive Primary Microcephaly Type 10

Related symptoms: Autosomal dominant inheritance Seizures Global developmental delay Generalized hypotonia Microcephaly SOURCES: OMIM MONDO UMLS More info about EPILEPTIC [mendelian.co]

Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays [pubfacts.com]

Congenital Myopathy with Excess of Thin Filaments

Examination showed generalized hypotonia and proximal muscle weakness. The CPK level was 200U/L and EMG showed myopathic changes. [neurologyindia.com]

Usually, the congenital myopathies present in infancy as generalized hypotonia and weakness. Motor milestones are typically delayed. [mhmedical.com]

Most common symptoms of MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Intellectual disability Global developmental delay Generalized hypotonia Scoliosis Growth [mendelian.co]

Infantile-Onset Pompe Disease

[…] and weakness, PD is also classified as a metabolic myopathy.17 Due to the general hypotonia and respiratory muscle weakness, infants with PD are more prone to pulmonary infections [ncbi.nlm.nih.gov]

[…] inversely correlated to the residual GAA activity, with the median age of clinical onset being 1.6 months for IoPD.4 Muscles being the most prominently involved organ leading to hypotonia [ncbi.nlm.nih.gov]

Late-Onset Pompe Disease

hypotonia 4 (4) 4/34 (11.8%) 2/11 (18%) Limb-girdle muscle weakness 17 (1) 17/34 (50.0%) 6/11 (55%) Proximal and distal limb muscle weakness 4 (2) 4/34 (11.8%) 3/11 (27%) [ncbi.nlm.nih.gov]

In the infantile-onset form of the disease, symptoms present in the first month or year of life with hypotonia, macroglossia, generalized muscle weakness or delayed motor [ncbi.nlm.nih.gov]

[…] muscle weakness, hypotonia, respiratory distress, and hypertrophic cardiomyopathy as main clinical features. [ncbi.nlm.nih.gov]

Multicore Myopathy with External Ophthalmoplegia

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR Is also known as ; Related symptoms: Autosomal recessive inheritance Global developmental delay Generalized hypotonia [mendelian.co]

Examination revealed generalized hypotonia, long facies and contractures. Reflexes were diminished. [neurologyindia.com]

[…] muscle weakness 0003324 Hydrops fetalis 0001789 Muscular hypotonia Low or weak muscle tone 0001252 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Neonatal [rarediseases.info.nih.gov]

Zebra Body Myopathy

Brain and Development 9(1): 61-64 1987 ISSN/ISBN: 0387-7604 PMID: 3605541 DOI: 10.1016/s0387-7604(87)80013-x Accession: 028804925 A 28-month-old male with generalized hypotonia [eurekamag.com]

Related symptoms: Generalized hypotonia Muscle weakness Muscular hypotonia High palate Motor delay SOURCES: MESH OMIM MENDELIAN More info about NEMALINE MYOPATHY 7; NEM7 Top [mendelian.co]

hypotonia Congestive heart failure Cardiomyopathy Calf muscle hypertrophy Toe walking Facial palsy Autosomal dominant inheritance Pica Difficulty walking Achilles tendon [mendelian.co]

Congenital Merosin-Positive Muscular Dystrophy

She had general hypotonia, proximal weakness, and normal head circumference. Joint contractures were absent. [pediatricneurosciences.com]

The most severe congenital form is associated with generalized hypotonia mental retardation and high neonatal mortality. [journals.lww.com]

Examination revealed generalized gross hypotonia with reduced bulk of muscles. There were no fasciculations and deep tendon reflexes were not elicitable. [neurologyindia.com]

Cerebellotrigeminal Dermal Dysplasia

Diseases related with Generalized hypotonia and Alopecia In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Alopecia [mendelian.co]

The patient also had generalized hypotonia in early life, and at age 4 years 9 months, she was found to be moderately mentally subnormal and to have severe cerebellar deficit [ncbi.nlm.nih.gov]

Related symptoms: Intellectual disability Seizures Global developmental delay Generalized hypotonia Hearing impairment SOURCES: ORPHANET OMIM MENDELIAN More info about PYCR2 [mendelian.co]

Wiedemann-Steiner Syndrome

[…] and Gait disturbance Symptoms // Phenotype % cases Generalized hypotonia Very Common - Between 80% and 100% cases Global developmental delay Common - Between 50% and 80% cases [mendelian.co]

Facial features included hypotonia and left-sided hypoplasia, left-sided ptosis, epicanthal folds, and a highly arched palate; she also had generalized hypotonia. [altmeyers.org]

Severe Neonatal-Onset Encephalopathy with Microcephaly

hypotonia Microcephaly Growth delay SOURCES: MONDO UMLS SCTID ORPHANET NCIT MESH OMIM More info about ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS Medium match [mendelian.co]

Although milder phenotypes have been described, these infants generally show severe hypotonia, poor visual attention and decreased alertness. [mrineonatalbrain.com]

Follow-up at 4 months showed microcephaly and severe neurodevelopmental delay with generalized hypotonia, head lag, and hyperreflexia. [ajnr.org]

Kaufman Oculocerebrofacial Syndrome

Pharmacological implications Use of succinylcholine in presence of generalized hypotonia is better avoided. No reports associated with malignant hyperthermia exist. [accessanesthesiology.mhmedical.com]

Use of succinylcholine in presence of generalized hypotonia is better avoided. No reports associated with malignant hyperthermia exist. [accessanesthesiology.mhmedical.com]

Mosaic Variegated Aneuploidy Syndrome

hypotonia Malar flattening Microcephaly Micrognathia Short sternum Abnormality of the nervous system Cerebellar hypoplasia Cerebral hypoplasia Corpus callosum, agenesis of [ncbi.nlm.nih.gov]

Generalized myoclonic seizure Generalized tonic-clonic seizures Hydrocephalus Hypodysplasia of the corpus callosum Intellectual disability, profound Severe global developmental [ncbi.nlm.nih.gov]

Hypospadias Micropenis Renal cyst Abnormality of the immune system Combined immunodeficiency Abnormality of the musculoskeletal system Brachycephaly Dandy-Walker syndrome Generalized [ncbi.nlm.nih.gov]

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hypermetropia Farsightedness Long-sightedness [ more ] 0000540 Hypertelorism Wide-set eyes Widely spaced [rarediseases.info.nih.gov]

[…] forehead [ more ] 0000337 Craniosynostosis 0001363 Dislocated radial head 0003083 Flared metaphysis Flared wide portion of long bone 0003015 Flat face Flat facial shape 0012368 Generalized [rarediseases.info.nih.gov]

Combined Oxidative Phosphorylation Defect Type 37

Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]

Generalized hypotonia Hypotonia Poor head control Secondary microcephaly Abnormality of the nervous system Cerebellar atrophy Cerebellar hypoplasia Global developmental delay [ncbi.nlm.nih.gov]

Axial hypotonia MedGen UID: 342959 •Concept ID: C1853743 • Finding Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. [ncbi.nlm.nih.gov]

16p12.2 Microdeletion Syndrome

Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]

hypotonia Abnormality of the nervous system Behavioral abnormality Delayed speech and language development Global developmental delay Seizure Etiology Congenit Heart Dis [ncbi.nlm.nih.gov]

[…] of head or neck Abnormal facial shape Abnormality of the cardiovascular system Abnormality of cardiovascular system morphology Abnormality of the musculoskeletal system Generalized [ncbi.nlm.nih.gov]

Klippel-Feil Syndrome Type 4 with Nemaline Myopathy and Facial Dysmorphism

hypotonia Klippel-Feil syndrome Microcephaly Micrognathia Myopathy Nemaline bodies Thoracolumbar scoliosis Abnormality of the nervous system Motor delay Ear malformation [ncbi.nlm.nih.gov]

hypotonia Microcephaly Scoliosis Micrognathia Motor delay Ptosis Abnormal facial shape Muscle weakness Myopathy And another 19 symptoms. [mendelian.co]

Thoracolumbar scoliosis MedGen UID: 196671 •Concept ID: C0749379 • Anatomical Abnormality Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized [ncbi.nlm.nih.gov]

Congenital Disorder of Glycosylation Type 1G

hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with [mendelian.co]

[…] of glycosylation type 1G: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized [findexpertmd.com]

Orpha Number: 79324 Definition A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized [rareguru.com]

Charcot-Marie-Tooth Disease Type 2R

Definición: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition[…] [hon.ch]

Mitochondrial Complex 3 Deficiency Nuclear Type 6

[…] more than 90% of the energy required by the body.[1] It is a severe, multisystem disorder that includes features such as lactic acidosis, hypotonia, hypoglycemia, failure [rarediseases.info.nih.gov]

[…] deficiency Categories: Mitochondrial complex III deficiency is one of several conditions caused by dysfunction of mitochondria, which are specialized compartments in cells that generate [rarediseases.info.nih.gov]

hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Hallucinations Hallucination Sensory hallucination [ more ] 0000738 Hyperreflexia [rarediseases.info.nih.gov]

Mitochondrial Complex 3 Deficiency Nuclear Type 4

Spondylometaepiphyseal Dysplasia - Short Limb - Abnormal Calcification

Generalized hypotonia MedGen UID: 346841 •Concept ID: C1858120 • Finding Generalized muscular hypotonia (abnormally low muscle tone). [ncbi.nlm.nih.gov]

hypotonia Genu varum Hypotonia Knee flexion contracture Malar flattening Micrognathia Odontoid hypoplasia Pectus excavatum Platyspondyly Posterior rib cupping Progressive [ncbi.nlm.nih.gov]

Atlantoaxial instability Bell-shaped thorax Broad long bones C1-C2 subluxation Elbow flexion contracture Epiphyseal stippling Flared iliac wing Flared metaphysis Frontal bossing Generalized [ncbi.nlm.nih.gov]

X-linked Mental Retardation Type Cabezas

hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 High forehead 0000348 Hypospadias 0000047 Intellectual disability Mental deficiency Mental retardation Mental [rarediseases.info.nih.gov]

Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Generalized [rarediseases.info.nih.gov]

Andermann Syndrome

References Andermann., E., 1981, Sensorimotor neuropathy with agenesis of the corpus callosum, in: “Handbook of Clinical Neurology,” Vol. 42, Pi. Vinken and G. Bruyn, eds., Elsevier, North Holland, Amsterdam. Google Scholar Andermann, E. and Andermann, F., 1990, Corpus callosum agenesis with sensorimotor neuropathy,[…] [link.springer.com]

Colpocephaly

hypotonia; birth feeding problems ongoing; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); generalized tonic-clonic seizures (HP:0002069); delayed growth [databases.lovd.nl]

hypotonia; birth feeding problems; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing [databases.lovd.nl]

hypotonia; feeding problems 6m; no eczema (-HP:0000964); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP [databases.lovd.nl]

GM1 Gangliosidosis Type 3

The infantile form (type I) is the most severe; establishes in the first 6 months of life with generalized CNS involvement, hypotonia, delay in neuropsychomotor development [scielo.br]

hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hydrops fetalis 0001789 Kyphosis Hunched back Round back [ more ] 0002808 Limb undergrowth limb shortening [rarediseases.info.nih.gov]

The early and extensive involvement of the CNS leads to a marked delay in neuropsychomotor development (NPMD), which gradually progresses to generalized hypotonia and seizures [scielo.br]