Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. [jhu.pure.elsevier.com]

Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience. [books.google.de]

Acronym MYPBB Synonyms Congenital myopathy with cleft palate and malignant hyperthermia NAM Native American myopathy Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Zebrafish at the Interface of Development and Disease Research presents the latest on the shared pathways that govern development and contribute to disease. [books.google.com]

Here we present two non‐Native American families, who were found to have STAC3 pathogenic variants. [ingentaconnect.com]

• Weakness

  His features included facial and generalized weakness, minimal limitation of horizontal gaze, cleft palate, and hypotonia, and he has a history of MH. [jhu.pure.elsevier.com]

  NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. [scipers.com]

  Affected infants have profound muscle weakness and severe hypotonia. [rarediseases.org]

  Tags: Case Records of the Massachusetts General Hospital, decreased reflexes, kinase levels, leg weakness, myotoxicity, proximal muscle weakness, proximal weakness, statin-associated myopathy Posted in Physicians-In-Training | Permalink | Comments Off [blogs.nejm.org]

  The muscles in his mouth were so weak that he couldn’t suck a bottle, Locklear said. Doctors weren’t sure what was wrong, and, without the ability to get the nutrients he needed, they didn’t give him long to live. [globalgenes.org]

• Hyperthermia

  Native American Myopathy: Congenital Myopathy With Cleft Palate, Skeletal Anomalies, And Susceptibility To Malignant Hyperthermia نويسند‌گان: [ Demetra S. [scipers.com]

  This case shows that NAM should also be considered in non-Indian patients with congenital myopathy, and suggests that STAC3 mutations should be taken into account as a potential cause of malignant hyperthermia. [ncbi.nlm.nih.gov]

  From Wikidata (Redirected from Q21124510 ) Jump to navigation Jump to search Human disease Myopathy, Congenital, With Cleft Palate and Malignant Hyperthermia NAM Congenital myopathy-cleft palate-malignant hyperthermia syndrome NATIVE AMERICAN MYOPATHY [wikidata.org]

  Malignant hyperthermia in a three-month-old American Indian infant. Anesth Analg 1987; 66 (10) 1043-1045 3 Meluch AM, Sibert KS, Bloch EC. Malignant hyperthermia following isoflurane anesthesia in an American Lumbee Indian. [thieme-connect.de]

• Short Stature

  NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. [scipers.com]

  AB - Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, [jhu.pure.elsevier.com]

  Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant [ncbi.nlm.nih.gov]

  Definition An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. [uniprot.org]

  Dataset OMIM Gene-Disease Associations Category disease or phenotype associations Type phenotype Description Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate [amp.pharm.mssm.edu]

• Fever

  […] used for different indications: cinnamon bark is used for anorexia, abdominal pain, asthmatic wheezing, diarrhoea, fatigue, impotence, infertility, loss of libido and urinary frequency; cinnamon twigs are used for arthritis, colds, fibroids, low-grade fever [medical-dictionary.thefreedictionary.com]

  Fever is a late finding in MH crisis. If we take measures to keep patients warm, temperature monitoring is unimportant. [apsf.org]

  Osteogenesis imperfecta type II Achalasia microcephaly syndrome Adrenomyodystrophy Orofaciodigital syndrome 3 Stiff person syndrome Myoclonus-dystonia Sialuria, French type Hartnup disease Toriello-Carey syndrome Thompson Baraitser syndrome Periodic fever [checkrare.com]

• Anemia

  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]

  RYR1, SEPN1, SIL1, STAC3, STIM1, SUCLA2, TIA1, TK2, TNNT1, TPM2, TPM3, TRIM32, TTN, VCP, VMA21, YARS2, CASQ1, CHCHD10, DNA2, PTPLA, LMOD3, MTMR14, ORAI1, SPEG disorder(s): Myopathy with Deficiency of ISCU, Myopathy, Lactic Acidosis, and Sideroblastic Anemia [genetests.org]

  CHROMOSOME 17p11.2 DELETION SYNDROME) Microcornea, strabismus, iris anomalies, myopia AD (sporadic unless secondary to a parental balanced translocation) RAI1, most cases caused by by a 3.7-Mb interstitial deletion in chromosome 17p11.2 #182290 SICKLE CELL ANEMIA [eyewiki.aao.org]

• Failure to Thrive

  […] by Ali Rockett PROSPECT – When her son, Gene, was only a few days old, Cassandra Locklear said doctors labeled him with a foreboding prognosis: “failure to thrive.” The muscles in his mouth were so weak that he couldn’t suck a bottle, Locklear said. [globalgenes.org]

  North Carolina: When her son, Gene, was a few days old, Cassandra Locklear said doctors labeled him with a foreboding prognosis: "failure to thrive." \They didn't know what was wrong. Gene's mouth muscles were too weak to suck a bottle. [nativevillage.org]

  […] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]

• Heart Disease

  Hand writing inflammatory myopathy with marker, concept background Cardiomyopathy heart disease: valve disease, aneurysm, coronary artery disease, cardiac arrhythmia, heart failture, cardiomyopathy and pericarditis Myopathy in word collage Heart failure [shutterstock.com]

  Heart disease is seen in more than 60% of patients in the advanced stages of illness ( 69 ). Some patients develop tachyarrhythmia requiring implantation of a cardioverter defibrillator ( 82 ). [jci.org]

  Thiene G, Angelini A, Basso C et al (1998) Novel heart diseases requiring transplantation. Adv Clin Path 2:65–73 PubMed Google Scholar 35. [link.springer.com]

  […] polydactyly heart disease Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis Refsum disease Spastic paraplegia 25 Camptodactyly-ichthyosis syndrome BRCA1 hereditary breast and ovarian cancer syndrome Multicentric [checkrare.com]

• Myopathy

  Native American Myopathy: Congenital Myopathy With Cleft Palate, Skeletal Anomalies, And Susceptibility To Malignant Hyperthermia نويسند‌گان: [ Demetra S. [scipers.com]

  Prevention - Native American myopathy Not supplied. Diagnosis - Native American myopathy Not supplied. Prognosis - Native American myopathy Not supplied. Treatment - Native American myopathy Not supplied. [checkorphan.org]

  Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper [ncbi.nlm.nih.gov]

  NAM NATIVE AMERICAN MYOPATHY edit English Native American myopathy Human disease Myopathy, Congenital, With Cleft Palate and Malignant Hyperthermia NAM Congenital myopathy-cleft palate-malignant hyperthermia syndrome NATIVE AMERICAN MYOPATHY; NAM NATIVE [wikidata.org]

• Fracture

  Babies with this disorder have severe muscle weakness, allowing little movement within the womb, as well as fractures, respiratory failure and swallowing difficulties at birth. [medicalxpress.com]

  Fractures may also occur. [rarediseases.org]

  […] loss Limb-girdle muscular dystrophy Muscular dystrophy Witkop syndrome Brugada syndrome Ruzicka Goerz Anton syndrome Sacral hemangiomas multiple congenital abnormalities Trisomy 2 mosaicism Epidermolysis bullosa Spondylometaphyseal dysplasia corner fracture [checkrare.com]

• Myalgia

  Recently, autoantibodies against HMG-CoA reductase have been described in such patients; these autoantibodies were not found in asymptomatic statin users or in patients with statin-associated myalgias. [blogs.nejm.org]

  Myositis word on checkered paper sheet- vector illustration Myalgia word and stethoscope icon- vector illustration Dystrophin muscle protein domain (N-terminal actin binding domain). Defects cause Duchenne muscular dystrophy (DMD). [shutterstock.com]

  Muscle pain (myalgia) may also occur. Involvement of certain neck muscles may make it difficult to hold one’s head up and cause the head to drop. [rarediseases.org]

• Blepharoptosis

  […] of ocular anterior segment AD FOXE3,PITX3 #107250 APERT SYNDROME Shallow orbits, proptosis, hypertelorism, downslanting palpebral fissures AD FGFR2 #101200 ARIMA SYNDROME Chorioretinal coloboma, retinal dystrophy, nystagmus, abnormal eye movements, blepharoptosis [eyewiki.aao.org]

  E disease Pfeiffer Mayer syndrome Thumb deformity Multiple pterygium syndrome lethal type Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy Popliteal pterygium syndrome Lowry Wood syndrome Jeune syndrome Blepharoptosis [checkrare.com]

• Prolapse

  Multiple pterygium syndrome Escobar type Severe congenital nemaline myopathy Epiphyseal dysplasia multiple with early-onset diabetes mellitus Gyrate atrophy of choroid and retina Calloso-genital dysplasia Sengers syndrome Trichothiodystrophy Mitral valve prolapse [checkrare.com]

• Suggestibility

  This case shows that NAM should also be considered in non-Indian patients with congenital myopathy, and suggests that STAC3 mutations should be taken into account as a potential cause of malignant hyperthermia. [ncbi.nlm.nih.gov]

  A second patient with a severe phenotype and muscle biopsy changes suggestive of nemaline myopathy, carried a homozygous missense mutation in KLHL40. [figshare.com]

  […] the social advantages outweigh other, the rate of congenital malformations and genetic diseases among the offspring borne of consanguineous marriages is higher and an increase in sterility, rates of abortions, stillbirths and neonatal deaths has been suggested [books.google.com]

  The Lumbee population is relatively isolated with evidence of consanguinity suggesting that homozygosity mapping methods may be employed for identifying the NAM disease locus. [cdr.lib.unc.edu]

• Downturned Corners of the Mouth

  Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant [ncbi.nlm.nih.gov]

  corners of mouth Downturned corners of the mouth Downturned mouth [ more ] 0002714 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Flexion contracture Flexed joint that cannot be straightened 0001371 High palate Elevated palate Increased [rarediseases.info.nih.gov]

• Irritability

  Electro diagnostic study showed evidence of a generalized myopathy with irritability. MRI of the lower extremities revealed characteristic fatty infiltration mostly affecting the semitendinosus, quadriceps, and tibialis anterior muscles. [neurology.org]

  Electromyographic studies show motor unit potentials and abnormal electric irritability characteristic of myopathy ( 70 ). [jci.org]

• Tremor

  Onset is shortly after birth and affected infants may have hypotonia, multiple contractures, and tremors, which usually diminish over the first few months of life. [rarediseases.org]

  Additional neurologic features include sensory abnormalities, tremor of the upper extremities, and a quivering chin. [emedicine.medscape.com]

• Dysarthria

  Some infants may have an abnormal waddling walk (gait), swallowing difficulties (dysphagia), speech difficulties (dysarthria), and a nasal tone to the voice. [rarediseases.org]

  […] refractive errors Spinocerebellar ataxia autosomal recessive 7 Agammaglobulinemia, non-Bruton type IL12RB1 deficiency MYD88 deficiency Goldmann-Favre syndrome Usher syndrome, type 1 Progressive deafness with stapes fixation Sensory ataxic neuropathy, dysarthria [checkrare.com]

• Foot Drop

  Affected individuals may be unable to bend the foot upward toward the leg (foot drop). Eventually the entire ankle and lower legs muscles are involved. In one family with this form of nemaline myopathy, two members required wheelchairs by age 40. [rarediseases.org]

  Her gait was waddling and she had bilateral foot drop. No muscle atrophies or hypertrophies were observed (Table 1 ). CK levels were 2-fold-increased. [bmcneurol.biomedcentral.com]

• Hyporeflexia

  […] the mouth Downturned mouth [ more ] 0002714 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Flexion contracture Flexed joint that cannot be straightened 0001371 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia [rarediseases.info.nih.gov]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.com]

No effective treatment is known. [en.wikipedia.org]

Powell said the breakthrough takes the guesswork out of diagnosis and is the first step to finding treatments. Locklear's daughter, 5-year-old Sydney, also has the disease. [nativevillage.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Prognosis - Native American myopathy Not supplied. Treatment - Native American myopathy Not supplied. Resources - Native American myopathy Not supplied. [checkorphan.org]

[…] by Ali Rockett PROSPECT – When her son, Gene, was only a few days old, Cassandra Locklear said doctors labeled him with a foreboding prognosis: “failure to thrive.” The muscles in his mouth were so weak that he couldn’t suck a bottle, Locklear said. [globalgenes.org]

North Carolina: When her son, Gene, was a few days old, Cassandra Locklear said doctors labeled him with a foreboding prognosis: "failure to thrive." \They didn't know what was wrong. Gene's mouth muscles were too weak to suck a bottle. [nativevillage.org]

Etiology The NAM locus has been localized to 12q13.13-14.1. Genetic counseling The disease is transmitted in an autosomal recessive manner. The documents contained in this web site are presented for information purposes only. [orpha.net]

Identifying the genetic basis of NAM may suggest new genetic etiologies for other more common conditions such as congenital myopathy and malignant hyperthermia. [neurology.org]

Etiology The NAM locus has been localized to 12q13.13-14.1. Genetic counseling The disease is transmitted in an autosomal recessive manner. Last updated: 2/19/2009 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

Summary Epidemiology NAM is reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence of NAM is estimated at approximately 1:5,000. [orpha.net]

Epidemiology NAM is reported exclusively in Native American Indians (Lumbee Indian population of North Carolina). Within this population, the prevalence of NAM is estimated at approximately 1:5,000. [rarediseases.info.nih.gov]

Epidemiology Frequency United States The estimated incidence is approximately 1 case in 40,000 men. [emedicine.medscape.com]

[…] and regulation of ECC, molecular mechanisms of junction formation, the impact redox modifications of ECC proteins on muscle, fatigue, aging, and disease, emerging evidence for the importance of ECC in muscle metabolism and metabolic disease, and the pathophysiological [grc.org]

Basso C, Bauce B, Corrado D, Thiene G (2011) Pathophysiology of arrhythmogenic cardiomyopathy. Nat Rev Cardiol 9:223–233 PubMed CrossRef Google Scholar 4. [link.springer.com]

Other investigators have also reviewed CAG repeats in KD. [31, 32] A number of molecular pathophysiologic studies of the androgen receptor have been conducted to clarify its role in the pathogenesis of KD. [33, 18, 34, 35, 36, 37, 38, 39] Androgen-receptor [emedicine.medscape.com]

Pathophysiology of chronic obstructive pulmonary disease. Chest Surgery Clinics of North America 1995;5:623-34. Celli BR. Standards for the diagnosis and treatment of patients with COPD. [advancehealthsolutions.com]

Prevention - Native American myopathy Not supplied. Diagnosis - Native American myopathy Not supplied. Prognosis - Native American myopathy Not supplied. Treatment - Native American myopathy Not supplied. [checkorphan.org]

Myopathies are diseases that prevent muscle fibres from functioning properly, causing muscular weakness. At present, there is no single treatment for the disease, as it can develop via a number of different pathways. [sciencedaily.com]

Corrado D, Leoni L, Link MS et al (2003) Implantable cardioverter-defibrillator therapy for prevention of sudden death in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. [link.springer.com]

Journal of neuropathology and experimental neurology. 75(2):102-10 Waugh, T.A., Horstick, E., Hur, J., Jackson, S.W., Davidson, A.E., Li, X., Dowling, J.J. (2014) Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy [zfin.org]