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Rosenberg H, Sambuughin N, Riazi S, et al.
GeneReviews® [Internet], 2020
Revue : GeneReviews® [Internet] Titre : Malignant Hyperthermia Susceptibility : Synonym: Malignant Hyperpyrexia Type de document : Article Auteurs : Rosenberg H ; Sambuughin N ; Riazi S ; Dirksen R Année de publication : 16/01/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; biopsie musculaire ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic clinique ; diagnostic différentiel ; diagnostic moléculaire ; dystrophie musculaire de Becker ; dystrophie musculaire de Duchenne ; dystrophie myotonique de type 1 ; dystrophie myotonique de type 2 ; examen clinique ; gène CACNL1A3 ; gène RYR1 ; génétique moléculaire ; grossesse ; hyperthermie maligne ; myopathie à central core ; myopathie à multiminicores ; myotonie congénitale ; paralysie périodique familiale hypokaliémique ; physiopathologie ; prévalence ; prévention des complications ; recommandation ; rhabdomyolyse ; susceptibilité génétique ; syndrome malin des neuroleptiques ; test de contracture ; thyréotoxicose Résumé : Initial Posting: December 19, 2003; Last Update: January 16, 2020.
Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.
The diagnosis of MHS is established with in vitro muscle contracture testing by measuring the contracture responses of biopsied muscle samples to halothane and graded concentrations of caffeine. The diagnosis of MHS can also be established by identification of a pathogenic variant in CACNA1S, RYR1, or STAC3 on molecular genetic testing.
Treatment of manifestations: Early diagnosis of an MH episode is essential. Successful treatment of an acute episode of MH includes: discontinuation of potent inhalation agents and succinylcholine; increase in minute ventilation to lower end-tidal CO2; use of MHAUS helpline; administration of dantrolene sodium intravenously; cooling measures if body temperature is >38.5° C; treatment of cardiac arrhythmias if needed (do not use calcium channel blockers); monitoring blood gases, serum concentrations of electrolytes and CK, blood and urine for myoglobin, and coagulation profile; treatment of metabolic abnormalities.
Prevention of primary manifestations: Individuals with MHS should not be exposed to potent volatile agents and succinylcholine. Individuals undergoing general anesthetics that exceed 30 minutes in duration should have their temperature monitored using an electronic temperature probe. Individuals with MHS should carry proper identification as to their susceptibility.
Agents/circumstances to avoid: Avoid potent inhalation anesthetics and succinylcholine. Calcium channel blockers should not be given together with dantrolene due to a potential cardiac depressant effect. Serotonin antagonist (5HT3-antagonist) antiemetics should be used cautiously. Individuals with MHS should avoid extremes of heat, but not restrict athletic activity unless there is a history of overt rhabdomyolysis and/or heat stroke. Strenuous activities at high ambient temperatures should be avoided or performed with caution. In individuals with MH undergoing cardiac bypass surgery, aggressive rewarming should be avoided, as it may be associated with development of clinical signs of MH.
Evaluation of relatives at risk: If the MHS-causative pathogenic variant in the family is known, molecular genetic testing can be used to established increased risk of MH in a heterozygous individual; molecular genetic testing alone cannot be used to identify family members who are not at increased risk for MH due to other possible genetic risk factors. If the pathogenic variant in the family is not known or if an at-risk relative is found to be negative for a familial pathogenic variant, muscle contracture testing can be used to assess susceptibility to MH.
Pregnancy management: If a pregnant woman with MHS requires a non-emergent surgery, a non-triggering anesthetic (local, nerve block, epidural, spinal anesthesia, or a total intravenous general anesthetic) should be administered. Continuous epidural analgesia is highly recommended for labor and delivery. If a cesarean delivery is indicated in a woman who does not have an epidural catheter in place, neuraxial (spinal, epidural, or combined spinal-epidural) anesthesia is recommended (if not otherwise contraindicated). If a general anesthetic is indicated, a total intravenous anesthetic technique should be administered, with an anesthesia machine that has been prepared for an MH-susceptible individual.
Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder. Most individuals diagnosed with MHS have a parent with MHS, although the parent may not have experienced an episode of MH. The proportion of individuals with MHS caused by a de novo pathogenic variant is unknown. Each child of an individual with MHS has a 50% chance of inheriting a causative pathogenic variant. Prenatal teesting for a pregnancy at increased risk is possible if there is a known MH pathogenic variant in the family.
Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301325Hackman P, Savarese M, Carmignac V, et al.
GeneReviews® [Internet], 2019
Revue : GeneReviews® [Internet] Titre : Salih Myopathy : Synonym: Early-Onset Myopathy with Fatal Cardiomyopathy Type de document : Article Auteurs : Hackman P ; Savarese M ; Carmignac V ; Udd B ; Salih MA Année de publication : 11/04/2019 Langues : Anglais (eng) Mots-clés : article de synthèse ; cardiomyopathie dilatée ; conseil génétique ; description de la maladie ; diagnostic ; diagnostic différentiel ; dystrophie musculaire congénitale ; examen clinique ; gène TTN ; génétique moléculaire ; histopathologie musculaire ; prévention des complications ; prise en charge thérapeutique Résumé : Initial Posting: January 12, 2012; Last Update: April 11, 2019.
Salih myopathy is characterized by muscle weakness (manifest during the neonatal period or in early infancy) and delayed motor development; children acquire independent walking between ages 20 months and four years. In the first decade of life, global motor performance is stable or tends to improve. Moderate joint and neck contractures and spinal rigidity may manifest in the first decade but become more obvious in the second decade. Scoliosis develops after age 11 years. Cardiac dysfunction manifests between ages five and 16 years, progresses rapidly, and leads to death between ages eight and 20 years, usually from heart rhythm disturbances.
The diagnosis is established in a proband by identification of biallelic pathogenic variants in the first three M-line-encoding exons (Mex1, Mex2, and Mex3) of TTN, the only gene in which pathogenic variants are known to cause Salih myopathy.
Treatment of manifestations: Care, best provided by a multidisciplinary team, includes stretching exercises and physical therapy; assistive mechanical devices for sitting and ambulation as needed; and appropriate technical support in educational settings. Treat heart failure and cardiac arrhythmia as soon as they are evident. Cardiac transplantation may be considered for progressive dilated cardiomyopathy and heart failure refractory to medical therapy.
Prevention of secondary complications: Annual influenza vaccine and other respiratory infection-related immunizations are advised. Aggressive treatment of lower-respiratory tract infections.
Surveillance: Electrocardiogram (ECG), 24-hour Holter ECG, and echocardiogram every six months beginning at age five years. Annual evaluation of respiratory function beginning at age 10 years. Clinical examination and x-ray as needed for orthopedic complications (e.g., foot deformity, joint contractures, spinal deformity).
Agents/circumstances to avoid: Ibuprofen in those with congestive heart failure.
Salih myopathy is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes (i.e., carriers of one pathogenic variant) and are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal diagnosis for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.
Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 22238790
Phosphorylase Kinase Deficiency : Synonyms: Glycogen Storage Disease Type IX, GSDIX, PhK Deficiency, Phosphorylase b Kinase DeficiencyHerbert M, Goldstein JL, Rehder C, et al.
GeneReviews® [Internet], 2018
Revue : GeneReviews® [Internet] Titre : Phosphorylase Kinase Deficiency : Synonyms: Glycogen Storage Disease Type IX, GSDIX, PhK Deficiency, Phosphorylase b Kinase Deficiency Type de document : Article Auteurs : Herbert M ; Goldstein JL ; Rehder C ; Austin S ; Kishnani PS ; Bali DS Année de publication : 01/11/2018 Langues : Anglais (eng) Mots-clés : activité enzymatique ; article de synthèse ; classification des maladies ; conseil génétique ; corrélation génotype-phénotype ; déficit en phosphorylase kinase ; description de la maladie ; diagnostic biochimique ; diagnostic différentiel ; diagnostic moléculaire ; foie ; génétique moléculaire ; grossesse ; hypoglycémie ; muscle squelettique ; pénétrance ; prévention des complications ; prise en charge thérapeutique ; suivi du malade ; variabilité clinique Résumé : Initial Posting: May 31, 2011; Last Update: November 1, 2018.
Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. The two types of PhK deficiency are liver PhK deficiency (characterized by early childhood onset of hepatomegaly and growth restriction, and often, but not always, fasting ketosis and hypoglycemia) and muscle PhK deficiency, which is considerably rarer (characterized by any of the following: exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness). While symptoms and biochemical abnormalities of liver PhK deficiency were thought to improve with age, it is becoming evident that patients need to be monitored for long-term complications such as liver fibrosis and cirrhosis.
The enzyme PhK comprises four copies each of four subunits (alpha, beta, gamma, and delta).
Pathogenic variants in:
PHKA1, encoding subunit alpha, cause the rare X-linked disorder muscle PhK deficiency;
PHKA2, also encoding subunit alpha, cause the most common form, liver PhK deficiency (X-linked liver glycogenosis);
PHKB, encoding subunit beta, cause autosomal recessive PhK deficiency in both liver and muscle;
PHKG2, encoding subunit gamma, cause autosomal recessive liver PhK deficiency.
The diagnosis of PhK deficiency is established in a proband with the characteristic clinical findings, a family history of suspected storage disease, and/or a hemizygous pathogenic variant in PHKA1 or PHKA2 or biallelic pathogenic variants in PHKB or PHKG2 identified by molecular genetic testing.
Treatment of manifestations:
Liver PhK deficiency. Hypoglycemia can be prevented with frequent daytime feedings that are high in complex carbohydrates and protein. When hypoglycemia or ketosis is present, Polycose® or fruit juice is given orally as tolerated or glucose by IV. Liver manifestations (e.g., cirrhosis, liver failure, portal hypertension) are managed symptomatically.
Muscle PhK deficiency. Physical therapy based on physical status and function; optimization of blood glucose concentrations by a metabolic nutritionist based on activity.
Liver PhK deficiency. Regular evaluation by a metabolic physician and a metabolic nutritionist. Monitoring of blood glucose concentration and blood ketones routinely as well as during times of stress (e.g., illness, intense activity, rapid growth, puberty) and reduced food intake. In children younger than age 18 years, liver ultrasound examination should be performed every 12 to 24 months. With increasing age, CT or MRI using intravenous contrast should be considered to evaluate for complications of liver disease. Echocardiogram should be performed at least every two years.
Muscle PhK deficiency. Regular evaluation by a metabolic physician, a metabolic nutritionist, and a physical therapist.
Agents/circumstances to avoid:
Liver PhK deficiency. Large amounts of simple sugars as they will increase liver storage of glycogen; prolonged fasting; high-impact contact sports if significant hepatomegaly is present; drugs known to cause hypoglycemia such as insulin and insulin secretogogues (the sulfonylureas) or drugs known to mask symptoms of hypoglycemia such as beta blockers; alcohol (which may predispose to hypoglycemia).
Muscle PhK deficiency. Vigorous exercise; medications like succinylcholine and statins that can cause rhabdomyolysis.
Evaluation of relatives at risk: Molecular genetic testing (if the family-specific pathogenic variant[s] are known) and/or evaluation by a metabolic physician (if the family-specific pathogenic variant[s] are not known) allows early diagnosis and treatment for sibs at increased risk for GSD IX.
Pregnancy management: Individualized dietary management is necessary to maintain euglycemia throughout pregnancy.
PHKA2-related liver PhK deficiency and PHKA1-related muscle PhK deficiency are inherited in an X-linked manner. PHKB-related liver and muscle PhK deficiency and PHKG2-related liver PhK deficiency are inherited in an autosomal recessive manner.
X-linked inheritance. If the mother of the proband has a pathogenic variant, the chance of transmitting it in each pregnancy is 50%. Males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be heterozygotes (carriers); the development of symptoms in individuals depends on the pattern of X-chromosome inactivation. Affected males pass the pathogenic variant to all of their daughters and none of their sons.
Autosomal recessive inheritance. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
Carrier testing for at-risk relatives, prenatal testing for pregnancies at risk, and preimplantation genetic testing are possible if the pathogenic variant(s) in the family have been identified.
Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 21634085Veerapandiyan A, Statland JM, Tawil R
GeneReviews® [Internet], 2018
Revue : GeneReviews® [Internet] Titre : Andersen-Tawil Syndrome : Synonym: Long QT Syndrome Type 7 (LQTS Type 7) Type de document : Article Auteurs : Veerapandiyan A ; Statland JM ; Tawil R Année de publication : 07/06/2018 Langues : Anglais (eng) Mots-clés : article de synthèse ; arythmie cardiaque ; cardiomyopathie dilatée ; conseil génétique ; corrélation génotype-phénotype ; diagnostic différentiel ; diagnostic moléculaire ; électrocardiographie ; électrophysiologie ; épilepsie ; examen clinique ; faiblesse musculaire ; gène KCNJ2 ; génétique moléculaire ; malformation ; paralysie périodique ; pénétrance ; potassium ; prévention des complications ; prise en charge thérapeutique ; syndrome d'Andersen-Tawil ; trouble de l'apprentissage Résumé : Initial Posting: November 22, 2004; Last Update: June 7, 2018.
Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.
The diagnosis of ATS is established in an individual with characteristic clinical and ECG findings and/or identification of a pathogenic variant in KCNJ2.
Treatment of manifestations: For episodic weakness: if serum potassium concentration is low (
Prevention of primary manifestations: Reduction in frequency and severity of episodic attacks of weakness with lifestyle/dietary modification to avoid known triggers; use of carbonic anhydrase inhibitors; daily use of slow-release potassium supplements; implantable cardioverter-defibrillator for those with tachycardia-induced syncope. Empiric treatment with flecainide should be considered for significant, frequent ventricular arrhythmias in the setting of reduced left ventricular function.
Prevention of secondary complications: Cautious use of antiarrhythmic drugs (particularly class I drugs) that may paradoxically exacerbate the neuromuscular symptoms.
Surveillance: Annual screening of asymptomatic individuals with a KCNJ2 pathogenic variant with a 12-lead ECG and 24-hour Holter monitoring.
Agents/circumstances to avoid: Medications known to prolong QT intervals; salbutamol inhalers (may exacerbate cardiac arrhythmias); thiazide and other potassium-wasting diuretics (may provoke drug-induced hypokalemia and could aggravate the QT interval prolongation).
Evaluation of relatives at risk: Molecular genetic testing if the pathogenic variant is known; if not, detailed neurologic and cardiologic evaluation, 12-lead ECG, and 24-hour Holter monitoring to reduce morbidity and mortality through early diagnosis and treatment of at-risk relatives.
ATS is inherited in an autosomal dominant manner. At least 50% of individuals diagnosed with ATS have an affected parent. Up to 50% of affected individuals have ATS as the result of a de novo pathogenic variant. Each child of an individual with ATS has a 50% chance of inheriting the disorder. Prenatal diagnosis for pregnancies at increased risk is possible if the KCNJ2 pathogenic variant has been identified in an affected family member.
Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301441Dupuy-Maury F
VLM. Vaincre les myopathies, 2018, 185, p. 26-27
Revue : VLM. Vaincre les myopathies, 185 Titre : Maladie de Steinert ; un outil pour anticiper la sévérité de la maladie : Bien vivre prévenir Type de document : VLM Auteurs : Dupuy-Maury F, Auteur Année de publication : 06/2018 Pages : p. 26-27 Langues : Français (fre) Mots-clés : cardiologie-angiologie ; consultation multidisciplinaire ; critère diagnostique ; dystrophie myotonique de type 1 ; étude d'évaluation ; évolution de la maladie ; examen clinique ; gène DMPK ; prévention des complications ; prise en charge pluridisciplinaire Résumé : Evaluer la sévérité de la dystrophie myotonique de Steinert pour adopter la meilleure prise en charge, c'est la promesse de l'outil développé pour les médecins par Karim Wahbi et d'autres cardiologues français. Lien associé : Pour consulter gratuitement le n°184 ou pour vous abonner à VLMVoir aussiRobert-Giraudel A
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