Muscle Hypertonia: Causes & Reasons

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Possible Causes for Muscle Hypertonia

Weaver Syndrome

[…] of muscles and mild developmental delay. [ncbi.nlm.nih.gov]

[…] of muscles mild developmental delay Associations thin-deep-set nails talipes equinovarus widened distal femora History and etymology It was initially described D D Weaver [radiopaedia.org]

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 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]

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]

Gaucher Disease

Other findings may include rapid head thrusts, bilateral fixed strabismus, and/or neck muscle hypertonia, limb rigidity, and seizures. [icahn.mssm.edu]

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]

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]

Recombinant Chromosome 8 Syndrome

[…] 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]

0000126 Hypertonia 0001276 Infra-orbital crease Crease in skin under the eye Groove in skin under the eye [ more ] 0100876 Joint contracture of the hand 0009473 Malar flattening [rarediseases.info.nih.gov]

Menkes Disease

[…] 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]

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]

Aromatic L-Amino Acid Decarboxylase Deficiency

(e.g., sitting up unassisted, crawling), increased muscle tone (hypertonia), abnormal rigidity of the arms and legs (limbs), decreased motor function or activity (hypokinesia [rarediseases.org]

Increased muscle tone of arm or leg 0002509 Miosis Constricted pupils Pupillary constriction [ more ] 0000616 Muscular hypotonia of the trunk Low muscle tone in trunk 0008936 [rarediseases.info.nih.gov]

and involuntary muscles spasms that result in slow, stiff movements of the limbs (spasticity). [rarediseases.org]

Developmental and Epileptic Encephalopathy Type 8

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]

Alpers Syndrome

[…] 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]

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]

Gaucher Disease Type 2

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]

Atypical Neuroaxonal Dystrophy

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]

Autosomal Recessive Spastic Paraplegia Type 52

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]

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]

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]

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[…] [alef-to-tav.com]

Wolcott-Rallison Syndrome

OBJECTIVE: This study describes the clinical and genetic evaluation of permanent neonatal diabetes due to Wolcott-Rallison syndrome (WRS) in south Indian consanguineous families. We aimed to evaluate the genetic basis of the disease in eight children with WRS from five South Indian families. PATIENTS AND METHODS: We[…] [ncbi.nlm.nih.gov]

GLUT1 Deficiency Syndrome

Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to[…] [ncbi.nlm.nih.gov]

Autosomal Recessive Spastic Paraplegia Type 53

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Autosomal Recessive Spastic Paraplegia Type 46

Michael V Johnston, Harold P Adams, Ali Fatemi Oxford University Press, 2016/08/18 - 1488 ページ 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 perspective[…] [books.google.com]

Hartnup Disease

Hartnup disease is an autosomal recessive, metabolic disorder which was first identified in members of the Hartnup family. The majority of patients with Hartnup disease are asymptomatic. The genetic defect is suspected in them only when a routine urinalysis shows the presence of aminoaciduria. Neutral[…] [symptoma.com]

Purine-Nucleoside Phosphorylase Deficiency

Y. Sasaki Mikiro Iseki Shinya Yamaguchi Yoshihiro Kurosawa Tetsuya Yamamoto Yuji Moriwaki Tsuyoshi Kenri Tsuguo Sasaki Ryoko Yamashita Abstract Purine nucleoside phosphorylase (PNP) deficiency is a rare immunodeficiency disease involving a T-lymphocyte-dysfunction that is fatal unless bone marrow transplantation is[…] [doi.org]

Autosomal Recessive Spastic Paraplegia Type 50

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]

Pontocerebellar Hypoplasia Type 10

Pontocerebellar Hypoplasia NORD gratefully acknowledges Said Omar, MD, FAAP, Professor and Medical Director, Neonatology, Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, and Ayodeji Ajibola, MD, Neonatology, Former NICHD Fellow, Pediatric Scientist Development[…] [rarediseases.org]

Mitochondrial Complex 3 Deficiency Nuclear Type 4

Title Other Names: Complex 3 mitochondrial respiratory chain deficiency Categories: Mitochondrial complex III deficiency is one of several conditions caused by dysfunction of mitochondria, which are specialized compartments in cells that generate more than 90% of the energy required by the body.[1] It is a severe,[…] [rarediseases.info.nih.gov]

Developmental and Epileptic Encephalopathy Type 1

Lethal Neonatal Spasticity - Epileptic Encephalopathy

[…] richard harpermed monash edu au hzaidiellipsisbiotherapeutics 1056 Germany HeinrichHeineUniversity 1069 james_powersurmc rochester edu IRCCS Fondazione Maugeri 1078 ROLAND REINEHR annette richterunruhendokrinologikum 1086 JOHANN OCKENGA Italy 1097 University of Cologne KHALID HUSSAIN 1120 Department of Dermatology[…] [books.google.com]

Fatal Infantile Hypertonic Myofibrillar Myopathy

Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare[…] [books.google.com]