{"Name":"Charcot-Marie-Tooth disease, type IA","DiseaseID__c":"GARD:0001245","id":1245,"encodedName":"charcot-marie-tooth-disease-type-ia","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease, type IA","Xref_IDs__c":"40632002; C0270911; C75468; DOID:0110148; MEDGEN:75727; MONDO:0007309; OMIM:118220; ORPHA:101081","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007309","Disease_Description__c":"Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications.","GARD_Name__c":"Charcot-Marie-Tooth disease, type IA","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease with focally folded myelin sheaths type 1a; charcot-marie-tooth disease type 1a; charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a; charcot-marie-tooth disease, demyelinating, type 1a; charcot-marie-tooth disease, type 1a; charcot-marie-tooth neuropathy type 1a; charcot-marie-tooth neuropathy, type 1a; charcot-marie-tooth syndrome type 1a; cmt 1a; cmt1a; hereditary motor and sensory neuropathy 1a; hereditary motor and sensory neuropathy ia; hmsn 1a; hmsn1a; microduplication 17p12","Curated_Disease_Description_Source__c":"GARD:0001245","Curated_Disease_Description__c":"Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they can also have hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:101081","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007309","ORPHANET_ID__c":"ORPHA:101081","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 1a","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 1a","Spanish_GARD_Synonym__c":"cmt1a; microduplicación 17p12","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":"Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they can also have hand weakness and sensory loss. CMT1A is caused by having an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0001245","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease with focally folded myelin sheaths type 1a; charcot-marie-tooth disease type 1a; charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a; charcot-marie-tooth disease, demyelinating, type 1a; charcot-marie-tooth disease, type 1a; charcot-marie-tooth neuropathy type 1a; charcot-marie-tooth neuropathy, type 1a; charcot-marie-tooth syndrome type 1a; cmt 1a; cmt1a; hereditary motor and sensory neuropathy 1a; hereditary motor and sensory neuropathy ia; hmsn 1a; hmsn1a; microduplication 17p12","Name":"Charcot-Marie-Tooth disease, type IA","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ACMT-Rete per la malattia di Charcot-Marie-Tooth","Website__c":"https://www.acmt-rete.it/"},{"Account_Name__c":"CMT Research Foundation","Website__c":"https://cmtrf.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Fondazione Telethon","Website__c":"https://www.fondazionetelethon.it/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.org/"},{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"Account_Name__c":"Charcot-Marie-Tooth UK","Website__c":"https://www.cmt.org.uk/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.org/"},{"Account_Name__c":"Charcot-Marie-Tooth Association Australia Inc.","Website__c":"https://www.cmt.org.au"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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":"Childhood","Provided_By__c":"ORPHA:101081"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0270911"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001245","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/101081","Source__c":"C0270911; MONDO:0007309; ORPHA:101081","Xref__c":"ORPHA:101081"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C75468","Source__c":"C0270911; MONDO:0007309","Xref__c":"C75468"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110148","Source__c":"MONDO:0007309","Xref__c":"DOID:0110148"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0270911","Source__c":"C0270911","Xref__c":"C0270911"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75727","Source__c":"C0270911","Xref__c":"MEDGEN:75727"},{"URL__c":"https://www.omim.org/entry/118220","Source__c":"C0270911; MONDO:0007309; ORPHA:101081","Xref__c":"OMIM:118220"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=40632002","Source__c":"C0270911","Xref__c":"40632002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007309","Source__c":"GARD:0001245","Xref__c":"MONDO:0007309"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PMP22","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pmp22","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002141","HPO_Synonym__c":"Abnormality of balance; Abnormality of equilibrium; Imbalanced walk","HPO_Name__c":"Gait imbalance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010833","HPO_Name__c":"Spontaneous pain sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010871","HPO_Synonym__c":"Afferent ataxia; Ataxia, sensory; Spinal ataxia","HPO_Name__c":"Sensory ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decrease in the strength of the diaphragm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009113","HPO_Synonym__c":"Diaphragmatic paraparesis; Weak diaphragm","HPO_Name__c":"Diaphragmatic weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030834","HPO_Synonym__c":"Shoulder pain","HPO_Name__c":"Shoulder pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced speed of conduction of the action potential along a sensory nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003448","HPO_Synonym__c":"Decreased sensory NCV; Decreased sensory nerve conduction velocities","HPO_Name__c":"Decreased sensory nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","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:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007131","HPO_Name__c":"Acute demyelinating polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","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:101081","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006801","HPO_Name__c":"Hyperactive deep tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of decreased nerve conduction velocity that affects the motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003431","HPO_Synonym__c":"Decreased motor NCV; Decreased motor nerve conduction velocities; Reduced motor nerve conduction velocity","HPO_Name__c":"Decreased motor nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101081","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007108","HPO_Name__c":"Demyelinating peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly","Peripheral Neuropathy"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"]},"synonyms":["autosomal dominant charcot-marie-tooth disease with focally folded myelin sheaths type 1a"," charcot-marie-tooth disease type 1a"," charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a"," charcot-marie-tooth disease, demyelinating, type 1a"," charcot-marie-tooth disease, type 1a"," charcot-marie-tooth neuropathy type 1a"," charcot-marie-tooth neuropathy, type 1a"," charcot-marie-tooth syndrome type 1a"," cmt 1a"," cmt1a"," hereditary motor and sensory neuropathy 1a"," hereditary motor and sensory neuropathy ia"," hmsn 1a"," hmsn1a"," microduplication 17p12"],"spanishId":13523,"spanishName":"enfermedad-de-charcot-marie-tooth-tipo-1a"}