{"Name":"Autosomal dominant centronuclear myopathy","DiseaseID__c":"GARD:0012719","id":12719,"encodedName":"autosomal-dominant-centronuclear-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant centronuclear myopathy","Xref_IDs__c":"716696006; C126689; C4551952; DOID:0111217; DOID:0111223; MEDGEN:1645741; MONDO:0008048; OMIM:160150; ORPHA:169189","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0008048","Disease_Description__c":"A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.","GARD_Name__c":"Autosomal dominant centronuclear myopathy","GARD_Synonym__c":"ad-cnm; autosomal dominant centronuclear myopathy caused by mutation in myf6; centronuclear myopathy 1; centronuclear myopathy, autosomal dominant; centronuclear myopathy, autosomal, modifier of; cnm1; myopathy, centronuclear, 1; myopathy, centronuclear, 3; myopathy, centronuclear, autosomal dominant; myopathy, centronuclear, type 1; myopathy, centronuclear, type 3; myotubular myopathy, autosomal dominant","Curated_Disease_Description_Source__c":"GARD:0012719","Curated_Disease_Description__c":"Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don't develop until adolescence or early adulthood and may include slowly progressive muscle weakness, muscle pain with exercise and difficulty walking. Although some affected people will eventually lose the ability to walk, this usually does not occur before the 6th decade of life. In more severe cases, affected people may develop symptoms during infancy or early childhood such as hypotonia and generalized weakness. These children generally have delayed motor milestones and often need wheelchair assistance in childhood or adolescence. Most cases of AD-CNM are caused by changes in the DNM2 gene; however, some affected families are reported to have genetic changes in the MYF6 or CCDC78 genes. The condition is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:169189","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008048","ORPHANET_ID__c":"ORPHA:169189","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía centronuclear autosómica dominante","Spanish_Description_Source__c":"ORPHA:169189","Spanish_Description__c":"Es una miopatía congénita autosómica dominante poco frecuente caracterizada por numerosos núcleos centrales en la biopsia muscular y características clínicas de miopatía congénita (hipotonía, debilidad muscular distal/proximal, deformidades de la caja torácica (a veces asociadas con insuficiencia respiratoria), ptosis, oftalmoparesia y debilidad de los músculos involucrados en la expresión facial con rasgos faciales dismórficos.","Spanish_Disease_Name__c":"miopatía centronuclear autosómica dominante","Spanish_GARD_Synonym__c":"ad-cnm","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Autosomal dominant centronuclear myopathy (AD-CNM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. In AD-CNM, specifically, the severity of the condition and the associated signs and symptoms vary significantly among affected people. In people with a mild form, features of the condition generally don't develop until adolescence or early adulthood and may include slowly progressive muscle weakness, muscle pain with exercise and difficulty walking. Although some affected people will eventually lose the ability to walk, this usually does not occur before the 6th decade of life. In more severe cases, affected people may develop symptoms during infancy or early childhood such as hypotonia and generalized weakness. These children generally have delayed motor milestones and often need wheelchair assistance in childhood or adolescence. Most cases of AD-CNM are caused by changes in the DNM2 gene; however, some affected families are reported to have genetic changes in the MYF6 or CCDC78 genes. The condition is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0012719","GARD_Synonym__c":"ad-cnm; autosomal dominant centronuclear myopathy caused by mutation in myf6; centronuclear myopathy 1; centronuclear myopathy, autosomal dominant; centronuclear myopathy, autosomal, modifier of; cnm1; myopathy, centronuclear, 1; myopathy, centronuclear, 3; myopathy, centronuclear, autosomal dominant; myopathy, centronuclear, type 1; myopathy, centronuclear, type 3; myotubular myopathy, autosomal dominant","Name":"Autosomal dominant centronuclear myopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Joshua Frase Foundation","Website__c":"https://www.joshuafrase.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Myotubular Trust","Website__c":"https://myotubulartrust.org/"},{"Account_Name__c":"Fundacja Oswoic Miopatie","Website__c":"http://www.oswoicmiopatie.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:169189"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:169189"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:169189"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:169189"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:169189"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1834558"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012719","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551952","Source__c":"C4551952","Xref__c":"C4551952"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111223","Source__c":"MONDO:0008048","Xref__c":"DOID:0111223"},{"URL__c":"https://www.omim.org/entry/160150","Source__c":"C4551952; MONDO:0008048; ORPHA:169189","Xref__c":"OMIM:160150"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716696006","Source__c":"MONDO:0008048","Xref__c":"716696006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111217","Source__c":"MONDO:0008048","Xref__c":"DOID:0111217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1645741","Source__c":"C4551952","Xref__c":"MEDGEN:1645741"},{"URL__c":"https://www.orpha.net/en/disease/detail/169189","Source__c":"C4551952; MONDO:0008048","Xref__c":"ORPHA:169189"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C126689","Source__c":"C4551952; MONDO:0008048","Xref__c":"C126689"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008048","Source__c":"GARD:0012719","Xref__c":"MONDO:0008048"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DNM2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dnm2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001520","HPO_Synonym__c":"Birth weight > 90th percentile; Birthweight > 90th percentile; Fetal macrosomia; Macrosomia; Macrosomia, neonatal","HPO_Name__c":"Large for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality characterized by disruption of the normal functioning of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003477","HPO_Synonym__c":"Axonal neuropathy; Axonal peripheral neuropathy","HPO_Name__c":"Peripheral axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally large skull with onset at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004488","HPO_Synonym__c":"Big cranium present at birth; Big cranium present since birth; Big skull present at birth; Big skull present since birth; Congenital large cranium; Congenital large skull; Congenital macrocephaly; Head circumference large for gestational age; Large cranium present at birth; Large cranium present since birth; Large skull present at birth; Large skull present since birth","HPO_Name__c":"Macrocephaly at birth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003803","HPO_Synonym__c":"Type I muscle fiber predominance","HPO_Name__c":"Type 1 muscle fiber predominance","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008180","HPO_Synonym__c":"Mildly elevated CPK; Mildly elevated creatine phosphokinase; Mildly elevated serum CK; Mildly elevated serum CPK; Mildly elevated serum phospho-CK; Mildly increased creatine kinase; Mildly increased serum creatine kinase; Moderately elevated serum CK; Moderately elevated serum CPK; Moderately increased serum creatine kinase","HPO_Name__c":"Mildly elevated creatine kinase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory failure in the newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012768","HPO_Synonym__c":"Asphyxia neonatorum","HPO_Name__c":"Neonatal asphyxia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002747","HPO_Synonym__c":"Decreased lung function due to weak breathing muscles; Decreased respiratory function due to muscle weakness; Respiratory distress due to muscle weakness; Respiratory failure due to muscle weakness; Respiratory muscle weakness","HPO_Name__c":"Respiratory insufficiency due to muscle weakness","Feature_System__c":"Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ribs with a reduced diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000883","HPO_Synonym__c":"Slender ribs; Thin ribs","HPO_Name__c":"Thin ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the musculature of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001436","HPO_Synonym__c":"Abnormal foot muscles","HPO_Name__c":"Abnormality of the foot musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010546","HPO_Synonym__c":"EMG: fibrillations on electromyogram","HPO_Name__c":"Muscle fibrillation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to elicit tendon reflexes in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002522","HPO_Synonym__c":"Absent lower limb tendon reflexes; Areflexia in lower limbs; Areflexia of the lower limbs; Areflexia, lower limbs","HPO_Name__c":"Areflexia of lower limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002021","HPO_Synonym__c":"Infantile hypertrophic pyloric stenosis; Pylorus stenosis","HPO_Name__c":"Pyloric stenosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in quantity or strength of fetal movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001558","HPO_Synonym__c":"Decreased fetal activity; Decreased fetal movements; Decreased movement in utero; Dminished fetal movement; Fetal hypokinesia; Less than 10 fetal movements in 12 hours; Reduced fetal movement; Reduced fetal movements","HPO_Name__c":"Decreased fetal movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008997","HPO_Synonym__c":"Proximal muscle weakness in upper limbs","HPO_Name__c":"Proximal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscle hypertrophy affecting the calf muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008981","HPO_Synonym__c":"Calf hypertrophy; Increased size of calf muscles; Muscular hypertrophy of the calf muscles","HPO_Name__c":"Calf muscle hypertrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paralysis of the external ocular muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000544","HPO_Synonym__c":"Chronic progressive external ophthalmoplegia; CPEO; Ophthalmoplegia externa; Paralysis or weakness of muscles within or surrounding outer part of eye; Progressive paralysis or weakness of muscles of eye motility; Progressive paralysis or weakness of muscles of eye movement","HPO_Name__c":"External ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001048","HPO_Synonym__c":"Cavernous angioma; Cavernous haemangioma; Collection of dilated blood vessels that forms mass","HPO_Name__c":"Cavernous hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The occurrence of an unusually high amount of muscle pain following exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003738","HPO_Synonym__c":"Exercise-induced muscle pain; Muscle pain on exercise; Muscle pain with exercise; Muscle pain, exercise-induced","HPO_Name__c":"Exercise-induced myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003687","HPO_Synonym__c":"Central nuclei; Centralized nuclei; Centralized sarcomeric nuclei","HPO_Name__c":"Centrally nucleated skeletal muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169189","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002047","HPO_Name__c":"Malignant hyperthermia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["ad-cnm"," autosomal dominant centronuclear myopathy caused by mutation in myf6"," centronuclear myopathy 1"," centronuclear myopathy, autosomal dominant"," centronuclear myopathy, autosomal, modifier of"," cnm1"," myopathy, centronuclear, 1"," myopathy, centronuclear, 3"," myopathy, centronuclear, autosomal dominant"," myopathy, centronuclear, type 1"," myopathy, centronuclear, type 3"," myotubular myopathy, autosomal dominant"]}