{"Name":"Charcot-Marie-Tooth disease dominant intermediate B","DiseaseID__c":"GARD:0012438","id":12438,"encodedName":"charcot-marie-tooth-disease-dominant-intermediate-b","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease dominant intermediate B","Xref_IDs__c":"765745007; C1847902; DOID:0110197; MEDGEN:338346; MONDO:0011674; OMIM:606482; ORPHA:100044","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011674","Disease_Description__c":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.","GARD_Name__c":"Charcot-Marie-Tooth disease dominant intermediate B","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type b; charcot-marie-tooth disease caused by mutation in dnm2; charcot-marie-tooth disease dominant intermediate 1; charcot-marie-tooth disease dominant intermediate i; charcot-marie-tooth disease dominant intermediate type b; charcot-marie-tooth disease, axonal type 2m; charcot-marie-tooth disease, dominant intermediate type b; charcot-marie-tooth neuropathy dominant intermediate b; charcot-marie-tooth neuropathy, dominant intermediate b; cmt di1; cmtdi1; cmtdib; di-cmtb; dnm2 charcot-marie-tooth disease","Curated_Disease_Description_Source__c":"MONDO:0011674","Curated_Disease_Description__c":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:100044","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011674","ORPHANET_ID__c":"ORPHA:100044","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo b","Spanish_Description_Source__c":"ORPHA:100044","Spanish_Description__c":"Es una neuropatía sensitivo-motora hereditaria poco frecuente caracterizada por velocidades de conducción del nervio mediano intermedias (generalmente entre 25 y 45 m/s) y signos de desmielinización y degeneración axonal en biopsias de nervio. Presenta los hallazgos clínicos habituales de la enfermedad de Charcot-Marie-Tooth, de leves a moderadamente graves y lentamente progresivos (debilidad muscular y atrofia distal de las extremidades, déficit sensitivo distal, reflejos osteotendinosos reducidos o ausentes y deformidades de los pies). Otros hallazgos incluyen neutropenia asintomática y cataratas de inicio temprano.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo b","Spanish_GARD_Synonym__c":"cmtdib","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":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.","Curated_Disease_Description_Source__c":"MONDO:0011674","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type b; charcot-marie-tooth disease caused by mutation in dnm2; charcot-marie-tooth disease dominant intermediate 1; charcot-marie-tooth disease dominant intermediate i; charcot-marie-tooth disease dominant intermediate type b; charcot-marie-tooth disease, axonal type 2m; charcot-marie-tooth disease, dominant intermediate type b; charcot-marie-tooth neuropathy dominant intermediate b; charcot-marie-tooth neuropathy, dominant intermediate b; cmt di1; cmtdi1; cmtdib; di-cmtb; dnm2 charcot-marie-tooth disease","Name":"Charcot-Marie-Tooth disease dominant intermediate B","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"},{"Account_Name__c":"Charcot-Marie-Tooth Association Australia Inc.","Website__c":"https://www.cmt.org.au"}],"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":"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":"Adolescent","Provided_By__c":"ORPHA:100044"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:100044"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:100044"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1358","Source__c":"Gene Review","Xref__c":"NBK1358"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110197","Source__c":"MONDO:0011674","Xref__c":"DOID:0110197"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338346","Source__c":"C1847902","Xref__c":"MEDGEN:338346"},{"URL__c":"https://www.omim.org/entry/606482","Source__c":"C1847902; MONDO:0011674; ORPHA:100044","Xref__c":"OMIM:606482"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765745007","Source__c":"C1847902; MONDO:0011674","Xref__c":"765745007"},{"URL__c":"https://www.orpha.net/en/disease/detail/100044","Source__c":"C1847902; MONDO:0011674; ORPHA:100044","Xref__c":"ORPHA:100044"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847902","Source__c":"C1847902","Xref__c":"C1847902"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011674","Source__c":"GARD:0012438","Xref__c":"MONDO:0011674"}],"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":"OMIM:606482","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606482","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":"OMIM:606482","Feature__r":{"HPO_Description__c":"Progressive deterioration of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000764","HPO_Name__c":"Peripheral axonal degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606482","Feature__r":{"HPO_Description__c":"A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003380","HPO_Synonym__c":"Decreased number of large and small myelinated fibers; Loss of myelinated fibers","HPO_Name__c":"Decreased number of peripheral myelinated nerve fibers","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606482","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":"OMIM:606482","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":"OMIM:606482","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040078","HPO_Name__c":"Axonal degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606482","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007107","HPO_Name__c":"Segmental peripheral demyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606482","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606482","Feature__r":{"HPO_Description__c":"Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003383","HPO_Name__c":"Onion bulb formation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606482","Feature__r":{"HPO_Description__c":"A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003481","HPO_Synonym__c":"Segmental demyelination/remyelination","HPO_Name__c":"Segmental peripheral demyelination/remyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:606482","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant intermediate charcot-marie-tooth disease type b"," charcot-marie-tooth disease caused by mutation in dnm2"," charcot-marie-tooth disease dominant intermediate 1"," charcot-marie-tooth disease dominant intermediate i"," charcot-marie-tooth disease dominant intermediate type b"," charcot-marie-tooth disease, axonal type 2m"," charcot-marie-tooth disease, dominant intermediate type b"," charcot-marie-tooth neuropathy dominant intermediate b"," charcot-marie-tooth neuropathy, dominant intermediate b"," cmt di1"," cmtdi1"," cmtdib"," di-cmtb"," dnm2 charcot-marie-tooth disease"]}