Edit concept Question Editor Create issue ticket

Native American Myopathy

Congenital Myopathy - Cleft Palate - Malignant Hyperthermia Syndrome


Presentation

  • 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]
  • Humans carry two copies of every gene, and NAM is a recessive genetic disease, meaning its disease-causing mutation must be present in both copies of any suspected gene.[medicaldaily.com]
  • Here we present two non-Native American families, who were found to have STAC3 pathogenic variants.[jhu.pure.elsevier.com]
  • Here we present two non‐Native American families, who were found to have STAC3 pathogenic variants.[ingentaconnect.com]
  • "Severe fatigue and muscle weakness, or MM, is among the most common clinical presentations of primary mitochondrial disease, making it difficult for patients to complete simple daily tasks.[prnewswire.com]
Hyperthermia
  • 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.com]
  • Features of NAM include congenital weakness, cleft palate, ptosis, short stature, and susceptibility to malignant hyperthermia provoked by anesthesia.[neurology.org]
Short Stature
  • 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]
  • 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]
  • NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia.[ncbi.nlm.nih.gov]
  • Cynthia Powell, a professor of pediatrics and genetics at the University of North Carolina at Chapel Hill, said the disease causes muscle weakness, short stature, cleft palates, joint tightness, club feet and spine curvature.[globalgenes.org]
Short Stature
  • 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]
  • 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]
  • NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia.[ncbi.nlm.nih.gov]
  • Cynthia Powell, a professor of pediatrics and genetics at the University of North Carolina at Chapel Hill, said the disease causes muscle weakness, short stature, cleft palates, joint tightness, club feet and spine curvature.[globalgenes.org]
Turkish
  • Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A T (p.K288*) and c.432 4A T (aberrant splicing with skipping of exon 4).[ncbi.nlm.nih.gov]
  • "Our research began with a Western Australian couple whose baby died after five days and a Turkish couple who tragically lost two babies in a row," Dr Ravenscroft says.[medicalxpress.com]
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]
Hypoventilation
  • Weakness of respiratory muscles is common and may cause breathing difficulties, and nocturnal hypoventilation, a condition in which inadequate breathing during sleep results in increased levels of carbon dioxide in the blood (hypercarbia).[rarediseases.org]
  • It causes nocturnal hypoventilation with oxygen desaturation and, eventually, daytime respiratory failure ( 78 ).[jci.org]
  • […] dystrophy Palmoplantar keratoderma-sclerodactyly syndrome Limb-body wall complex Lopes Gorlin syndrome Currarino triad Spondylometaphyseal dysplasia with cone-rod dystrophy Brachydactyly with hypertension Acral peeling skin syndrome Congenital central hypoventilation[checkrare.com]
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]
Ptosis
  • 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]
  • NAM has been characterized by a combination of clinical features, including congenital onset of muscle weakness, susceptibility to malignant hyperthermia, multiple joint contractures and dysmorphic facial features including ptosis.[snpedia.com]
  • 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, ptosis[amp.pharm.mssm.edu]
  • NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia.[ncbi.nlm.nih.gov]
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]
Low Set Ears
  • ears Low set ears Lowset ears [ more ] 0000369 Malignant hyperthermia 0002047 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia[rarediseases.info.nih.gov]
Translucent Skin
  • Young zebrafish also have translucent skin and scales, making it easy to visually study their muscle architecture.[medicaldaily.com]
Torticollis
  • She was born with a cleft palate, clubfoot and torticollis - the muscles on one side of her neck are weak, while the other side is contracted, causing her head to tilt.[nativevillage.org]
  • Limb-girdle muscular dystrophy, type 2B Seaver Cassidy syndrome Naegeli syndrome Temtamy syndrome Battaglia-Neri syndrome Accessory deep peroneal nerve Glutamine deficiency, congenital Renier Gabreels Jasper syndrome Malignant hyperthermia arthrogryposis torticollis[checkrare.com]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 Talipes 0001883 Telecanthus Corners of eye widely separated 0000506 Showing of 31 Last updated: 5/1/2019 Making a diagnosis for a genetic[rarediseases.info.nih.gov]
Flexion Contracture
  • contracture Flexed joint that cannot be straightened 0001371 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia Decreased reflex response Decreased reflexes [ more ] 0001265 Kyphoscoliosis 0002751 Low-set ears Low set[rarediseases.info.nih.gov]
Skeletal Dysplasia
  • dysplasia Sebaceous gland hyperplasia, familial presenile Pentosuria Xanthinuria type 2 Renal hypomagnesemia-6 Deafness, autosomal dominant nonsyndromic sensorineural 3 Hypertrichosis lanuginosa congenita Gestational trophoblastic tumor Multiple endocrine[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]
  • […] 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]
  • 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]
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]
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]
Cryptorchidism
  • […] inheritance 0000007 Blepharophimosis Narrow opening between the eyelids 0000581 Brachycephaly Short and broad skull 0000248 Cleft palate Cleft roof of mouth 0000175 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cryptorchidism[rarediseases.info.nih.gov]
  • […] syndrome Congenital central hypoventilation syndrome Alternating hemiplegia of childhood Carpenter syndrome Ehlers-Danlos syndrome, periodontitis type Timothy syndrome Myokymia with neonatal epilepsy Hyperthermia induced defects Torticollis keloids cryptorchidism[checkrare.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]
Responsiveness Decreasing
  • Decreased reflexes [ more ] 0001265 Kyphoscoliosis 0002751 Low-set ears Low set ears Lowset ears [ more ] 0000369 Malignant hyperthermia 0002047 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head[rarediseases.info.nih.gov]

Treatment

  • This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA.[books.google.com]
  • 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]
  • 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]
  • Treatment - Native American myopathy Not supplied. Resources - Native American myopathy Not supplied.[checkorphan.org]
  • The breakthrough will take the guesswork out of diagnosis, Powell said, and is the first step to finding treatments for the disease. Read more here.[globalgenes.org]

Prognosis

  • 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

  • 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]
  • 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]

Epidemiology

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

Pathophysiology

  • […] 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

  • 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]
  • ., Dowling, J.J. (2014) Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy.[zfin.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!