Possible Causes for muscle hypertonia Muscle Spasticity This is the 'neural component' of muscle hypertonia. [ncbi.nlm.nih.gov] This suggests that the MAS measures muscle hypertonia rather than spasticity. [ncbi.nlm.nih.gov] A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. [profiles.umassmed.edu] Kohlschütter-Tönz Syndrome The full text of this article hosted at iucr.org is unavailable due to technical difficulties. Brief Report Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases, UCL[…] [doi.org] Distal Hereditary Motor Neuropathy Type 1 Loading... Please wait... My Account Order Status Wish Lists Gift Certificates View Cart Sign in or Create an account Search Advanced Search Search Tips Home Contact Us Blog Categories New Arrivals Books Gifts Kinor Collection Yair Emanuel Kinor Collection Challah Board Challah Knife Koren Mishnayot Music Mussar Adin[…] [alef-to-tav.com] Wolcott-Rallison Syndrome Summary Epidemiology Fewer than 60 cases have been reported to date. Most patients are from consanguineous families. Prevalence may therefore vary significantly between countries.WRS may be underdiagnosed because of early death before diagnosis. Clinical description Diabetes occurs early, generally before six[…] [orpha.net] Menkes Disease […] with brisk muscle stretch reflexes. [annalsofian.org] […] sparse hair with coarse texture, pili torti, perianal dermatitis, high arched palate, open mouth, gingival prominence, cutis laxa, profound axial hypotonia, and appendicular hypertonia [annalsofian.org] GLUT1 Deficiency Syndrome GLUT-1 protein is the principal glucose transporter across the blood-brain barrier. GLUT-1 deficiency results in a syndrome of infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia, and ataxia. A low cerebrospinal[…] [ncbi.nlm.nih.gov] Alpers Syndrome Neurology. 2005 Nov 8;65(9):1493-5. Epub 2005 Sep 21. Author information 1 Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California, San Diego, CA, USA. Abstract Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following[…] [ncbi.nlm.nih.gov] Maple Syrup Urine Disease (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] Autosomal Recessive Spastic Paraplegia Type 18 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] Autosomal Dominant Spastic Paraplegia Type 9A 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] Hereditary Spastic Paraplegia […] 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] Autosomal Recessive Primary Microcephaly Type 10 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] Weaver Syndrome […] of muscles and mild developmental delay. [ncbi.nlm.nih.gov] (increased muscle tone) with camptodactyly (inability to fully extend the fingers). [medicinenet.com] Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia [ncbi.nlm.nih.gov] Autosomal Recessive Spastic Paraplegia Type 53 William Vaughn Iorns U.S. Government Printing Office, 1964 - 1036 pagini 0 Recenzii A compilation of basic data on the quantity and quality of water. Previzualizați această carte » Ce spun oamenii - Scrieți o recenzie Nu am găsit nicio recenzie în locurile obișnuite. Pagini selectate Pagina 734 Pagina 726 Pagina 714 Pagina[…] [books.google.ro] Autosomal Recessive Spastic Paraplegia Type 46 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] Infantile Neuroaxonal Dystrophy 1 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] Dihydropyrimidine Dehydrogenase Deficiency 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] Hartnup Disease From Wikidata Jump to navigation Jump to search Human disease Neutral 1 amino acid transport defect (disorder) deficiency of tryptophan oxygenase neutral amino acid transport defect Neutral 1 amino acid transport defect Hartnup disorder HND Hartnup Disease Aminoaciduria, Hartnup type HARTNUP DISORDER; HND edit[…] [wikidata.org] Purine-Nucleoside Phosphorylase Deficiency Abstract Cultured skin fibroblasts from a patient with T-cell immune deficiency and an absence of purine nucleoside phosphorylase activity in red cells were assayed for their capacity to metabolize inosine and guanosine. The cultured fibroblasts were lacking activity of nucleoside phosphorylase and, compared to[…] [ncbi.nlm.nih.gov] Hereditary Hyperekplexia 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] Constipation Anorectal manometry and rectal balloon expulsion Rectal and pelvic examinations may reveal hypertonia of the pelvic floor muscles and anal sphincters. [merckmanuals.com] Insomnia His sleep improved, suicidal tendencies stopped, less fasciculations occurred, and muscle hypertonia also improved. [ncbi.nlm.nih.gov] Polyneuropathy His sleep improved, suicidal tendencies stopped, less fasciculations occurred, and muscle hypertonia also improved. [ncbi.nlm.nih.gov] Paresis hypertonia[3] In the past, the term was most commonly used to refer to "general paresis", which was a symptom of untreated syphilis.[1] However, due to improvements in treatment [en.wikipedia.org] […] multiple sclerosis[1] and cerebral palsy[2] Other[edit] Gastroparesis – impaired stomach emptying A form of ophthalmoplegia Spastic paresis – exaggerated tendon reflexes and muscle [en.wikipedia.org] Hyaline Body Myopathy Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. [genome.jp] Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency ( 6 ). [pnas.org] […] is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle fibers and predominantly proximal muscle [genome.jp] Myosin Storage Myopathy Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. [genome.jp] Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency ( 6 ). [pnas.org] […] is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle fibers and predominantly proximal muscle [genome.jp] Athetoid Cerebral Palsy 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] Holding a Health Care Provider Accountable for Athetoid Cerebral Palsy When children have athetoid cerebral palsy, they move between hypotonia (very low muscle tone) and hypertonia [marylandinjurylawyer.net] Hyperkalemia HYPERTONUS TONUS Zie ook: SPIEREN MUSCLES SPIERSTELSEL SPIERWEEFSEL MUSCULAR SYSTEM Zie ook: HYPOTONIE HYPOTONIA HYPOTONUS Wat is: Tonus, Hypertonus/Hypotonus Hypertonie [catsclem.nl] […] belangrijkste musculo-skeletale aandoeningen: Hypothenar Hammer Syndrome HYPOTONIE HYPOTONIA HYPOTONUS Zie ook: CONGENITAL HYPOTONIA BENIGN CONGENITAL HYPOTONIA Zie ook: SPIEREN MUSCLES [catsclem.nl] Hypertonie (hoge spierspanning) baby NINDS Hypertonia Information Page HYPERTRIGLYCERIDEMIE HYPERTRIGLYCERIDEMIA Zie ook: TRIGLYCERIDEN TRIGLYCERIDES Cholesterolverhoging [catsclem.nl] Bilateral Leg Weakness hypertonia [3] In the past, the term was most commonly used to refer to " general paresis ", which was a symptom of untreated syphilis. [1] However, due to improvements in [en.wikipedia.org] muscles may also show spasticity with an exaggerated jaw jerk. [patient.info] […] sclerosis. [1] and Cerebral palsy [2] Other [ edit ] Gastroparesis – impaired stomach emptying A form of ophthalmoplegia Spastic paresis – exaggerated tendon reflexes and muscle [en.wikipedia.org] Bladder Neck Obstruction We suggest that the identified postural imbalances could represent the cause for an anomalous activation of pelvic floor muscles (hypertonia). [ncbi.nlm.nih.gov]
