Presentation
// Taber's Cyclopedic Medical Dictionary;2005, p2206 A definition of the medical term "torticollis" is presented. [connection.ebscohost.com]
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With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background. [books.google.de]
We present the case of a girl with similar clinical findings who died in a malignant hyperthermia crisis and review the previously reported cases of King syndrome. [onlinelibrary.wiley.com]
Birch, MD Chief Complaint History of Present Illness Family History Birth History Growth and Development: The Key Questions 3 - The Orthopaedic Examination: A Comprehensive John G. [catdir.loc.gov]
Entire Body System
- Anemia
[…] type 1 Fanconi anemia type 2 Fanconi anemia type 3 Fanconi–Bickel syndrome Fanconi ichthyosis dysmorphism Fanconi like syndrome Fanconi pancytopenia Fanconi syndrome Fanconi syndrome, renal, with nephrocalcinosis and renal stones Fanconi anemia Fara–Chlupackova [sosu.us]
Adrenomyodystrophy Orofaciodigital syndrome 3 Stiff person syndrome Myoclonus-dystonia Sialuria, French type Hartnup disease Toriello-Carey syndrome Thompson Baraitser syndrome Periodic fever, aphthous stomatitis, pharyngitis and adenitis Sickle cell anemia [checkrare.com]
[…] cystic disease Medullary thyroid carcinoma Medulloblastoma Meg–Mei [ edit ] Megacystis microcolon intestinal hypoperistalsis syndrome Megaduodenum Mega-epiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia [en.wikipedia.org]
Medullary cystic disease Medullary thyroid carcinoma Medulloblastoma Meg-Mei Megacystis microcolon intestinal hypoperistalsis syndrome Megaduodenum Mega-epiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia [thefullwiki.org]
Megaloblastic anemia[?] Megalocornea mental retardation syndrome[?] Megalocytic Interstitial Nephritis[?] Mehes syndrome[?] Mehta Lewis Patton syndrome[?] Meier Blumberg Imahorn syndrome[?] Meier Rotschild syndrome[?] Meige syndrome[?] [encyclopedia.kids.net.au]
- Weakness
[…] cry Fatigable weakness Bulbar palsy Abnormality of the immune system Easy fatigability Poor suck Respiratory insufficiency due to muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Cyanosis Paralysis [mendelian.co]
Pooja; Bapat, Sunil // Internet Journal of Anesthesiology;2009, Vol. 21 Issue 1, p5 Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that causes multiple joint contractures and can be associated with muscle weakness [connection.ebscohost.com]
Underdeveloped fingernail [ more ] 0001804 Inguinal hernia 0000023 Kyphosis Hunched back Round back [ more ] 0002808 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Muscular hypotonia Low or weak [rarediseases.info.nih.gov]
Muscle weakness and congenital contractures in a case of congenital myasthenia. J Pediatr Orthop 1986; 6:227-31 Hageman G, Ippel EP, Beemer FA, de Pater JM, Lindhout D, Willemse J. [arthritisresearch.us]
[…] phosphorylase kinase deficiency Eisenmenger syndrome Seckel like syndrome Majoor-Krakauer type Medulloblastoma Birt-Hogg-Dube syndrome Epidermolysa bullosa simplex with muscular dystrophy Familial hemiplegic migraine type 1 Distal myopathy with vocal cord weakness [checkrare.com]
- Swelling
Only 4 cases have been reported in the literature from 3 in síndrome acro-oto-ocular SNOMEDCT-ES (optic disc swelling not secondary to increased intracranial pressure) mixed hearing loss, facial dysmorphism and limb extremity anomalies. [wordscope.com]
With unsure swelling, the produc- tion of wart factors also provides faithfully the right muddle of signaling molecules that can flex to tumorigenesis because of their effects on any matured sprout cells that dominion be in the section. [nhha.org]
[…] hemorrhoids[pl] 【出血性腎炎】*hemorrhagic nephritis 【出血性大腸炎】*hemorrhagic colitis ^=出血性結腸炎 【出血性脳炎】*hemorrhagic encephalitis 【出血性脳症】*hemorrhagic encephalopathy 【出血性膀胱炎】*hemorrhagic cystitis 【出血痘】*hemorrhagic vaccinia 【出血熱】*hemorrhagic fever (略 HF) (腫) 【腫大】【腫脹】*swelling [medo.jp]
- Chills
Syndromes Chills Hepatitis Lindane is rarely used because of its side effects. Do not scrub or dry the skin too hard or for too long. A cut is made, either inside the mouth or outside under the chin. [sarcomacancer.org]
General Information: When possible, all brains should be chilled/cooled in wet ice for at least one half-hour prior to sectioning to enhance the ease and quality of sectioning. [msdiscovery.org]
- Congestive Heart Failure
[…] to thrive Intellectual disability Talipes equinovarus Feeding difficulties Hypertelorism Congestive heart failure Generalized muscle weakness Microcephaly Proximal muscle weakness Rigidity Apnea Tics Muscular dystrophy Minicore myopathy Hypertrophic [mendelian.co]
heart failure (略 CHF) *congestive cardiac failure 【腕相撲骨折】*armwrestling fracture 【運動緩慢】*bradykinesia 【運動機能亢進】*hypermobility 【運動恐怖症】*kinesophobia 【運動幻覚】*kinesthetic hallucination 【運動錯誤】*parakinesis 【運動失調】*ataxia/*ataxy *dynamic ataxia 【運動障害】*dysmotility [medo.jp]
Respiratoric
- Dyspnea
[…] occasional (7.5%) Occasional (29-5%) HP:0001252 5 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650 6 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808 7 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023 8 dyspnea [malacards.org]
[…] of the ribs Rib abnormalities 0000772 Advanced eruption of teeth Early eruption of teeth 0006288 Broad alveolar ridges 0000187 Capillary hemangioma Strawberry birthmark 0005306 Dolichocephaly Long, narrow head Tall and narrow skull [ more ] 0000268 Dyspnea [rarediseases.info.nih.gov]
空胞細胞症) 【コクシジウム症】*coccidiosis 【コラーゲン炎】*collagenitis 【コルサコフ症候群】*Korsakoff syndrome 【コレラ】*cholera 【コレステロール塞栓症】*cholesterol embolism *atheroma embolism 【コレラ性下痢】*cholera diarrhea/*choleraic diarrhea 【コンジローマ】*condyloma (呼) 【呼吸緩徐】【呼吸緩慢】*bradypnea (=徐呼吸) 【呼吸困難】*dyspnea [medo.jp]
Gastrointestinal
- Diarrhea
To this extinguish generic ditropan 5mg visa gastritis diet õàíóêà, unheard-of maturation cocktails or immunostimu- latory factors arrange been assayed in command to stimulate these RNA-pulsed cells purchase 2.5mg ditropan with amex gastritis chronic diarrhea [ddna.org]
[…] dermatitis 【アナフィラキシー】*anaphylaxis 【アフタ】*aphtha (形 *aphthous) 【アフタ性咽頭炎】*aphthous pharyngitis 【アフタ性潰瘍】 *aphthous ulcer 【アフタ性口内炎】 *aphthous stomatitis 【アフタ性歯肉炎】 *aphthous gingivitis 【アミロイド症】【アミロイドーシス】*amyloidosis =類澱粉沈着症 【アメーバ症】*amebiasis 【アメーバ性下痢】*amebic diarrhea [medo.jp]
Intrauterine growth retardation Multiple skeletal anomalies Short palpebral fissure Downturned corners of mouth Abnormality of the foot Generalized hypotonia due to defect at the neuromuscular junction Apneic episodes precipitated by illness, fatigue, stress Diarrhea [mendelian.co]
悪性症候群 日本救急医学会・医学用語解説集 ■全身こむら返り病(里吉病) syndrome of progressive muscle spasm alopecia and diarrhea ■全身こむら返り病(里吉病) syndrome of progressive muscle spasm alopecia and diarrhea ■痙性麻痺 spastic paralysis 上位運動 ニューロン障害で起こり、筋緊張(トーヌス)亢進、腱反射亢進、病的反射(バビンスキー反射など)の出現、巧緻運動 [medmk.com]
Landau-Kleffner syndrome Tetrasomy 9p Brachydactylous dwarfism Mseleni type Synovial chondromatosis, familial with dwarfism Florid cemento-osseous dysplasia Optic atrophy polyneuropathy deafness 2-methylbutyryl-CoA dehydrogenase deficiency Congenital chloride diarrhea [checkrare.com]
Cardiovascular
- Heart Failure
[…] to thrive Intellectual disability Talipes equinovarus Feeding difficulties Hypertelorism Congestive heart failure Generalized muscle weakness Microcephaly Proximal muscle weakness Rigidity Apnea Tics Muscular dystrophy Minicore myopathy Hypertrophic [mendelian.co]
heart failure (略 CHF) *congestive cardiac failure 【腕相撲骨折】*armwrestling fracture 【運動緩慢】*bradykinesia 【運動機能亢進】*hypermobility 【運動恐怖症】*kinesophobia 【運動幻覚】*kinesthetic hallucination 【運動錯誤】*parakinesis 【運動失調】*ataxia/*ataxy *dynamic ataxia 【運動障害】*dysmotility [medo.jp]
Eyes
- Visual Impairment
Abnormality of the cardiovascular system Cortical visual impairment Sudden cardiac death Generalized tonic-clonic seizures Memory impairment Abnormality of neuronal migration Type II diabetes mellitus Progressive sensorineural hearing impairment Migraine [mendelian.co]
Musculoskeletal
- Muscle Weakness
[…] fiber diameter Behavioral abnormality Aspiration Asthenia Bulbar signs Weak cry Fatigable weakness Bulbar palsy Abnormality of the immune system Easy fatigability Poor suck Respiratory insufficiency due to muscle weakness EMG: decremental response of [mendelian.co]
Muscle weakness and congenital contractures in a case of congenital myasthenia. J Pediatr Orthop 1986; 6:227-31 Hageman G, Ippel EP, Beemer FA, de Pater JM, Lindhout D, Willemse J. [arthritisresearch.us]
- Lordosis
*spinal paralysis *myeloplegia *myeloplegia 【脊髄瘤】*myelocele *syringocele 【脊髄癆】*tabes dorsalis[L] *myelophthisis〈=骨髄癆〉 【脊柱管狭窄症】【脊柱管狭窄】*spinal canal stenosis/*spinal stenosis 【脊柱後側彎症】*kyphoscoliosis 【脊柱後彎症】*kyphosis =亀背 【脊柱前側彎症】*lordoscoliosis 【脊柱前彎症】*lordosis [medo.jp]
Ears
- Hearing Impairment
impairment Abnormality of the cardiovascular system Cortical visual impairment Sudden cardiac death Generalized tonic-clonic seizures Memory impairment Abnormality of neuronal migration Type II diabetes mellitus Progressive sensorineural hearing impairment [mendelian.co]
impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405 27 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714 28 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561 29 nasal speech 59 32 frequent (33%) [malacards.org]
impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Downturned corners [rarediseases.info.nih.gov]
[…] disorder Hearing impairment Hearing loss Heart aneurysm Heart attack Heart block progressive, familial Heart block Heart defect round face congenital retarded development Heart defect tongue hamartoma polysyndactyly Heart defects limb shortening Heart [sosu.us]
impairment *[=聴力損失] hearing loss *bradyacusia *hypacusis (ニ) 【ニコチン性口内炎】*nicotinic stomatitis 【ニューモシスチス症】*pneumocystosis 【ニワトリ歩行】*steppage gait (=鶏歩) (肉) 【肉眼的膿尿】*macropyuria 【肉芽腫】*granuloma 【肉芽腫症】*granulomatosis 【肉芽腫性口唇炎】*cheilitis granulomatosa 【肉腫】* [medo.jp]
Face, Head & Neck
- Mask-like Facies
80%) HP:0001840 17 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610 18 webbed neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000465 19 hyperconvex fingernails 59 32 occasional (7.5%) Occasional (29-5%) HP:0001812 20 mask-like [malacards.org]
facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Metatarsus adductus Front half of foot turns inward 0001840 Plagiocephaly Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ] 0001357 [rarediseases.info.nih.gov]
Congestive heart failure Generalized muscle weakness Microcephaly Proximal muscle weakness Rigidity Apnea Tics Muscular dystrophy Minicore myopathy Hypertrophic cardiomyopathy Short neck Hepatomegaly Abnormality of the skeletal system Flat face Kyphosis Mask-like [mendelian.co]
Neurologic
- Stroke
MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS Is also known as melas syndrome;mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; mitochondrial myopathy, encephalopathy, lactic acidosis [mendelian.co]
MS, SCI and stroke), we subdue prerequisite to take cognizance of how to optimize the treatment in pattern to elude unwanted side effects. [ddna.org]
Carotid atherosclerosis is a important gamble aspect looking for stroke and tran- sient ischemic corrosion (TIA). [blkhospital.com]
EP-4104 (dantrolene) for Exertional Heat Stroke EHS is a rare, sudden and unpredictable life-threatening medical condition. [medmk.com]
Adenylosuccinase deficiency Torticollis, familial Renal tubular acidosis with deafness Trichothiodystrophy Mucolipidosis type 4 Maturity-onset diabetes of the young Dihydropteridine reductase deficiency Hereditary endotheliopathy, retinopathy, nephropathy, and stroke [checkrare.com]
- Excitement
Mechanistic perspicacity into the function of these inflammatory molecules in the aetiopathogenesis of seizures demonstrated their unmistakeable effects in inducing neuronal network hyper-excitability. [blkhospital.com]
Treatment
More Symptoms of Malignant hyperthermia arthrogryposis torticollis » Treatments See also the following treatment articles: Treatments for Hyperthermia Causes See also causal information: Causes of Malignant Hyperthermia Causes of Torticollis Genetics [familydiagnosis.com]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]
Sucato Definition History Incidence Etiology Associated Conditions Pathophysiology Natural History Clinical Presentation Imaging Studies Screening Criteria Treatment of the Neonate Treatment of the Young Child (Ages 1 to 6 Months) Treatment of the Child [catdir.loc.gov]
Treatment - Malignant hyperthermia arthrogryposis torticollis Not supplied. Resources - Malignant hyperthermia arthrogryposis torticollis Not supplied. [checkorphan.org]
Prognosis
Prognosis - Malignant hyperthermia arthrogryposis torticollis Not supplied. Treatment - Malignant hyperthermia arthrogryposis torticollis Not supplied. Resources - Malignant hyperthermia arthrogryposis torticollis Not supplied. [checkorphan.org]
Sucato Definition History Etiology Pathology Clinical Presentation Imaging Studies Classification Systems Based on Radiographic Findings Differential Diagnosis Treatment Long-Term Prognosis 18 - Slipped Capital Femoral Epiphysis John G. [catdir.loc.gov]
Etiology
Abstract Arthrogryposis multiplex conjenita (AMC) is a rare defect characterized by multiple joint contractures, seen with 3% frequency in newborn period with unknown etiology. [scopemed.org]
Sucato Definition History Etiology Pathology Clinical Presentation Imaging Studies Classification Systems Based on Radiographic Findings Differential Diagnosis Treatment Long-Term Prognosis 18 - Slipped Capital Femoral Epiphysis John G. [catdir.loc.gov]
[…] syndrome 1 carbamyl phosphate synthetase I deficiency 1 carbohydrate glycoprotein deficiency syndrome 1 cardiac anomalies 1 carnitine deficiency 4 caudal regression syndrome 1 cavernous hemangioma 1 cerebellar degeneration 1 cerebral edema of unknown etiology [msdiscovery.org]
Epidemiology
Birch, MD Introduction Incidence and Epidemiology Classification Etiology Pathology Clinical Picture Imaging Studies Treatment Complications Long-Term Outcome for Patients with Slipped Capital Femoral Epiphysis 19 - Developmental Coxa Vara John G. [catdir.loc.gov]
Pathophysiology
Birch, MD Incidence Heredity Clinical Features Radiographic Findings Pathophysiology Biomechanics Treatment 20 - Disorders of the Femur J.A. (Tony) Herring, MD A. Femoral Anteversion B. Intoeing 21 - Disorders of the Knee Karl E. [catdir.loc.gov]
Prevention
Prevention - Malignant hyperthermia arthrogryposis torticollis Not supplied. Diagnosis - Malignant hyperthermia arthrogryposis torticollis Not supplied. Prognosis - Malignant hyperthermia arthrogryposis torticollis Not supplied. [checkorphan.org]
The delineation of King syndrome provides further evidence for the heterogeneity of malignant hyperthermia and increases awareness of this disorder; its recognition in a female may lead to preoperative diagnosis and prevention of malignant hyperthermia [onlinelibrary.wiley.com]
Optimally, the cryopreservation media against to become fixed the apheresis products is supplemented with 25 U/mL of DNAse (either dornase alpha or Benzonase ) to prevent cellular aggre- gation associated with the DNA from lysed cells following glacial [waittfoundation.org]
【適応】 (悪性高熱症) RYANODEX is a skeletal muscle relaxant drug indicated for: 1) Treatment of malignant hyperthermia in conjunction with appropriate supportive measures. 2) Prevention of malignant hyperthermia in patients at high risk. [medmk.com]