Muscle Hypertonia: Causes & Reasons

Possible Causes for Muscle Hypertonia

Intellectual disability, loose muscles (hypotonia) of the core, and rigid muscles (hypertonia) of the limbs with poor coordination are also seen. [rarediseases.org]

(increased muscle tone) with camptodactyly (inability to fully extend the fingers). [medicinenet.com]

[…] of muscles and mild developmental delay. [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]

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]

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]

[…] 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]

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]

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]

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]

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]

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]

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]

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]

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

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]

14q11-q22 Microdeletion Syndrome

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]

Kohlschütter-Tönz Syndrome

Kohlschütter-Tönz syndrome Other names Epilepsy-dementia-amelogenesis imperfecta syndrome Kohlschütter-Tönz syndrome is inherited via an autosomal recessive manner Specialty Neurology Kohlschütter-Tönz syndrome (KTS), also called amelo-cerebro-hypohidrotic syndrome,[1] is a rare inherited syndrome characterized[…] [en.wikipedia.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

Abstract Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal/early-onset non-autoimmune insulin-dependent diabetes, multiple epiphyseal dysphasia and growth retardation. It is caused by mutations in the gene encoding eukaryotic translation initiation factor 2α kinase 3[…] [rde.dspace-express.com]

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]

Revesz Syndrome

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]

GLUT1 Deficiency Syndrome

@inproceedings{Gras2018GLUT1DS, title={GLUT1 deficiency syndrome: An update Mise au point sur le syndrome de déficit en transporteur du glucose GLUT1}, author={Domitille Gras and Emmanuel Roze and Samantha Caillet and Aur{\'e}lie M{\'e}neret and D. Doummar and Thierry Billette de Villemeur and Marie Vidailhet and[…] [semanticscholar.org]

Autosomal Recessive Spastic Paraplegia Type 53

Hereditary spastic paraplegia Specialty Neurology Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs.[1] HSP is also known as hereditary spastic[…] [en.wikipedia.org]

Autosomal Recessive Spastic Paraplegia Type 46

Hartnup Disease

Continuing Education Activity Hartnup disease is an autosomal recessive disorder resulting in impaired functioning of transport protein in intestines and kidneys. This results in wasting of neutral amino acids which manifests as cutaneous and neurologic clinical symptoms. This activity describes the various etiological[…] [ncbi.nlm.nih.gov]

Purine-Nucleoside Phosphorylase Deficiency

[…] purine nucleoside phosphorylase deficiency traductions purine nucleoside phosphorylase deficiency + Ajouter Déficit en purine nucléoside phosphorylase en combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has material basis in mutation in the PNP gene and[…] [fr.glosbe.com]

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]

Partial Monosomy 1q

hypertonia and predominance of whorls on the fingers. 1, record 1, English, - trigonocephaly Record 1, French Record 1, Domaine(s) Appareil locomoteur (Médecine) Record 1 [btb.termiumplus.gc.ca]

[…] number: 1 CONT (A new deletion syndrome) Both patients have trigonocephaly with prominent forehead; wide flat nasal bridge; anteverted nostrils; long upper lip; short neck; muscle [btb.termiumplus.gc.ca]

Partial Monosomy 21q

hypertonia and predominance of whorls on the fingers. 1, record 1, English, - trigonocephaly Record 1, French Record 1, Domaine(s) Appareil locomoteur (Médecine) Record 1 [btb.termiumplus.gc.ca]