Spasticity MedGen UID: 7753 • Concept ID: C0026838 • Sign or Symptom A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE.
[ncbi.nlm.nih.gov]
Encephalopathy Myoclonus Clonus Rare Symptoms - Less than 30% cases Muscle weakness Skeletal muscle atrophy Poor suck Delayed myelination Brain atrophy Micrognathia Intellectual
[mendelian.co]
Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone.
[ncbi.nlm.nih.gov]
Intellectual disability, loose muscles (hypotonia) of the core, and rigid muscles (hypertonia) of the limbs with poor coordination are also seen.
[rarediseases.org]
[…] of muscles and mild developmental delay.
[ncbi.nlm.nih.gov]
People with WS may have muscles that get more rigid over time (hypertonia), especially in the arms and legs.
[rarediseases.org]
Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed
[monarchinitiative.org]
They will show neurological problems such as recurrent seizures (epilepsy), intellectual disability, small head size (microcephaly), increased muscle tone (hypertonia), delayed
[strongmom.org]
Other movement disorders can be present such as decreased movements (hypokinesia), increased muscle tone (hypertonia) in the limbs, sustained muscle contraction and abnormal
[rarediseases.org]
[…] tone with either hypertonia or hypotonia, scoliosis common from neuromuscular origin), urogenital system (cryptorchidism, hypoplastic scrotum, other urinary tract anomalies
[accessanesthesiology.mhmedical.com]
and low (hypotonia) muscle tones Musculoskeletal issues such as hypermobility (lax joints) Mild craniofacial differences Sleep disorders Sometimes our brain mixes up signals
[project8p.org]
[…] otitis media), heart (conotruncal defect and tetralogy of Fallot are most common), central nervous system (CNS) (moderate to severe mental retardation, seizure, abnormal muscle
[accessanesthesiology.mhmedical.com]
The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam. Clobazam was also tried with no apparent response.
[kundoc.com]
Description Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli
[medlineplus.gov]
Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially
[ghr.nlm.nih.gov]
Increased muscle tone of arm or leg 0002509 Parietal hypometabolism in FDG PET 0012662 Scoliosis Abnormal curving of the spine 0002650 Spasticity Involuntary muscle stiffness
[rarediseases.info.nih.gov]
[…] retardation, nonspecific Mental-retardation [ more ] 0001249 Knee flexion contracture 0006380 Kyphosis Hunched back Round back [ more ] 0002808 Language impairment 0002463 Limb hypertonia
[rarediseases.info.nih.gov]
Other findings may include rapid head thrusts, bilateral fixed strabismus, and/or neck muscle hypertonia, limb rigidity, and seizures.
[icahn.mssm.edu]
and apnea Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia Parkinson's disease is recognized as being more common in Gaucher's
[en.wikipedia.org]
Neurologic symptoms (in types 2 and 3), such as convulsions, dementia, ocular muscle apraxia, mental retardation, and myoclonus, can be seen, as are osteoporosis, hypertonia
[archivesofpathology.org]
Hypertonia. Upper motor neuron disorders result in an increase in muscle tone.
[nba.uth.tmc.edu]
The higher firing rate causes an increase in the resting level of muscle activity, resulting in hypertonia. Hyperreflexia.
[nba.uth.tmc.edu]
Upper motor neuron disorders produce a graded weakness of movement ( paresis ), which differs from the complete loss of muscle activity caused by paralysis ( plegia ).
[nba.uth.tmc.edu]
[…] tone Low muscle tone [ more ] 0001290 Hypertonia 0001276 Hypopigmentation of the skin Patchy lightened skin 0001010 Joint laxity Joint instability Lax joints Loose-jointedness
[rarediseases.info.nih.gov]
[…] abnormality [ more ] 0000271 Brachycephaly Short and broad skull 0000248 Cutis laxa Loose and inelastic skin 0000973 Death in childhood 0003819 Generalized hypotonia Decreased muscle
[rarediseases.info.nih.gov]
(muscle rigidity) and hypotonia (muscle limpness) high-pitched cry Signs of intermediate and thiamine-response MSUD include: seizures neurological deficiencies developmental
[healthline.com]
[…] lethargy poor appetite weight loss weak sucking ability irritability a distinctive maple sugar odor in earwax, sweat, and urine irregular sleep patterns alternating episodes of hypertonia
[healthline.com]
[…] to movement-restricting hypertonia).
[raredr.com]
HSP symptoms generally target muscles of the lower body.
[raredr.com]
Common symptoms that are typical of this upper motor neuron disease include worsening muscle stiffness, weakness and spasticity (in which excessive muscle contraction leads
[raredr.com]
[…] tone Low muscle tone [ more ] 0001290 Gliosis 0002171 Hepatic failure Liver failure 0001399 Hepatomegaly Enlarged liver 0002240 Hypertonia 0001276 Increased CSF protein 0002922
[rarediseases.info.nih.gov]
0002910 Epilepsia partialis continua 0012847 Ethylmalonic aciduria 0003219 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Generalized hypotonia Decreased muscle
[rarediseases.info.nih.gov]
and apnea Type III: muscle twitches known as myoclonus, convulsions, dementia, and ocular muscle apraxia Parkinson's disease is recognized as being more common in Gaucher's
[en.wikipedia.org]
Neurological symptoms occur only in some types of Gaucher's (see below): Type I: impaired olfaction and cognition Type II: serious convulsions, hypertonia, intellectual disability
[en.wikipedia.org]
Soft Tissue - Axial hypotonia - Hypertonia - Decreased shank muscle mass Neurologic Central Nervous System Febrile seizures (in some patients) Focal seizures (in some patients
[mnglabs.com]
Spasticity MedGen UID: 7753 • Concept ID: C0026838 • Sign or Symptom A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE.
[ncbi.nlm.nih.gov]
[…] been reported (last curated May 2016) - Onset at birth Molecular Basis - Caused by mutation in the adaptor-related protein complex 4, sigma-1 subunit (AP4S1, 607243.0001 ) Muscle
[mnglabs.com]
More active than typical 0000752 Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Impaired smooth pursuit 0007772 Impulsivity Impulsive 0100710 Intellectual disability
[rarediseases.info.nih.gov]
Poor feeding [ more ] 0011968 Frontal bossing 0002007 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle
[rarediseases.info.nih.gov]
[…] tone [ more ] 0001290 Generalized muscle weakness 0003324 Gliosis 0002171 Global developmental delay 0001263 Hearing impairment Deafness Hearing defect [ more ] 0000365 Hyperactivity
[rarediseases.info.nih.gov]
Hypertonia MedGen UID: 10132 •Concept ID: C0026826 • Finding A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult
[ncbi.nlm.nih.gov]
3 reviews Sarah Leigh (Genomics England Curator) Claire Smith (University of Leeds) Mode of inheritance BIALLELIC, autosomal or pseudoautosomal Phenotypes amelogenesis imperfecta (hypoplastic); Kohlschütter-Tönz syndrome; Epileptic encephalopathy, early infantile, 25 OMIM 615905 Publications PMID: 27600704 26384929[…]
[panelapp.genomicsengland.co.uk]
Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred[…]
[ncbi.nlm.nih.gov]
0002509 Parietal hypometabolism in FDG PET 0012662 Scoliosis Abnormal curving of the spine 0002650 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257
[rarediseases.info.nih.gov]
[…] retardation, nonspecific Mental-retardation [ more ] 0001249 Knee flexion contracture 0006380 Kyphosis Hunched back Round back [ more ] 0002808 Language impairment 0002463 Limb hypertonia
[rarediseases.info.nih.gov]
Journal Article•DOI• TL;DR: The results provide evidence for the role of EIF2AK3 in WRS and may provide insight into the understanding of the more common forms of diabetes and other pathologic manifestations of WRS. ...read moreread less Abstract: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive[…]
[typeset.io]
Hypertonia MedGen UID: 10132 •Concept ID: C0026826 • Finding A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult
[ncbi.nlm.nih.gov]
Return to The Medical Biochemistry Page © 1996–2019 themedicalbiochemistrypage.org, LLC | info @ themedicalbiochemistrypage.org GLUT1 deficiency syndrome-1 (GLUT1DS) is an autosomal dominant disorder where over 90% of cases represent the appearance of a new mutation, i.e. no prior familial involvement. GLUT1DS[…]
[themedicalbiochemistrypage.org]
[…] by George Carroll Whipple III On 24 April 1967 the keel for USS WHIPPLE (DE 1062) was laid at the Todd Shipyard in Seattle, Washington. WHIPPLE is one of 46 Knox class ships honoring naval historian D.W. Knox. WHIPPLE was christened in the memory of Commodore Abraham WHIPPLE of the Continental Navy. Commodore WHIPPLE[…]
[whipple.org]
Michael V. Johnston, Harold P. Adams, Ali Fatemi Oxford University Press, 2016 - 1398 من الصفحات The second edition of Neurobiology of Disease includes nearly 200 articles surveying all major disorders of the nervous system in both adults and children, focusing on relevant diagnosis and treatments from the[…]
[books.google.com]
NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version Hartnup disease is a rare disease due to abnormal absorption and excretion of tryptophan and other amino acids. Symptoms are rash, CNS abnormalities, short stature, headache, and collapsing or fainting. Diagnosis is by high[…]
[merckmanuals.com]
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY [#2174] Test Name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Related Disease(s) Gene Name(s) Immunodeficiency due to purine nucleoside phosphorylase deficiency (OMIM # 613179 ); PNP (OMIM # 164050 ); Synonym PNP Sequence Analysis;NUCLEOSIDE PHOSPHORYLASE; NP;[…]
[duzengenetics.com]
ARHGEF9 gene associated with defects in GPHN associated with defects in SLC6A5 autosomal dominant or autosomal recessive Clinical-manifestations abnormal startle reflex muscle
[anvita.info]
Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone ( hypertonia ) and an exaggerated startle reaction to unexpected stimuli, especially
[familydiagnosis.com]
Symptoms include increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises.
[diseaseinfosearch.org]
Hypertonia causes a myriad of potential symptoms, from muscle spasms to rigidity.
[caringforspecialneedskids.com]
A combination of high muscle tone (hypertonia) and low muscle tone or “floppiness” (hypotonia) is the hallmark of athetoid Cerebral Palsy (ADCP).
[thecplawyer.com]
Kids with spastic CP have increased muscle tone (this is called “hypertonia”), so their muscles are overly stiff.
[nemours.org]
Affiliations PMID: 15303387 Case Reports Post-interval syndrome after carbon monoxide poisoning Sahin Aslan et al. Vet Hum Toxicol. 2004 Aug. Abstract Carbon monoxide (CO) exposure and toxicity is a potentially lethal disorder with immediate and delayed side effects. A 24-y-old driver was admitted to the[…]
[pubmed.ncbi.nlm.nih.gov]
