{"Name":"Charcot-Marie-Tooth disease type 4B1","DiseaseID__c":"GARD:0001253","id":1253,"encodedName":"charcot-marie-tooth-disease-type-4b1","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 4B1","Xref_IDs__c":"715803003; C1832399; C535420; DOID:0110191; MEDGEN:321947; MONDO:0011066; OMIM:601382; ORPHA:99955","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011066","Disease_Description__c":"Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).","GARD_Name__c":"Charcot-Marie-Tooth disease type 4B1","GARD_Synonym__c":"autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b1; charcot-marie-tooth disease type 4 caused by mutation in mtmr2; charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1; charcot-marie-tooth disease, demyelinating, type 4b1; charcot-marie-tooth disease, type 4b; charcot-marie-tooth neuropathy type 4b1; charcot-marie-tooth neuropathy type 4b1 (cmt4b1); cmt4b1; mtmr2 charcot-marie-tooth disease type 4","Curated_Disease_Description_Source__c":"MONDO:0011066","Curated_Disease_Description__c":"Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:99955","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011066","ORPHANET_ID__c":"ORPHA:99955","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 4b1","Spanish_Description_Source__c":"ORPHA:99955","Spanish_Description__c":"La enfermedad de Charcot-Marie-Tooth tipo 4B1 (CMT4B1) es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 de aparición en la infancia temprana caracterizado por una neuropatía sensitivo-motora desmielinizante grave con diversos grados de plegamiento complejo de la mielina observados en biopsias de nervio periférico, velocidad de conducción nerviosa muy lenta y a menudo indetectable, y el típico fenotipo CMT (es decir, debilidad y atrofia muscular distal, pérdida sensorial y pie cavo frecuente). Otras características reportadas incluyen debilidad facial, paresia de las cuerdas vocales, dificultades respiratorias y deformidades esqueléticas (por ejemplo, deformidades torácicas, manos en garra, pie equinovaro).","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 4b1","Spanish_GARD_Synonym__c":null,"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 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).","Curated_Disease_Description_Source__c":"MONDO:0011066","GARD_Synonym__c":"autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b1; charcot-marie-tooth disease type 4 caused by mutation in mtmr2; charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1; charcot-marie-tooth disease, demyelinating, type 4b1; charcot-marie-tooth disease, type 4b; charcot-marie-tooth neuropathy type 4b1; charcot-marie-tooth neuropathy type 4b1 (cmt4b1); cmt4b1; mtmr2 charcot-marie-tooth disease type 4","Name":"Charcot-Marie-Tooth disease type 4B1","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"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":"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":"Infancy","Provided_By__c":"ORPHA:99955"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:99955"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832399"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/601382","Source__c":"C1832399; MONDO:0011066; ORPHA:99955","Xref__c":"OMIM:601382"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=321947","Source__c":"C1832399","Xref__c":"MEDGEN:321947"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715803003","Source__c":"C1832399; MONDO:0011066","Xref__c":"715803003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110191","Source__c":"MONDO:0011066","Xref__c":"DOID:0110191"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832399","Source__c":"C1832399","Xref__c":"C1832399"},{"URL__c":"https://www.orpha.net/en/disease/detail/99955","Source__c":"C1832399; MONDO:0011066; ORPHA:99955","Xref__c":"ORPHA:99955"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535420","Source__c":"MONDO:0011066","Xref__c":"C535420"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011066","Source__c":"GARD:0001253","Xref__c":"MONDO:0011066"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MTMR2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601382","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601382","Feature__r":{"HPO_Description__c":"The presence of excessive redundant myelin in the peripheral nerve sheath.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004336","HPO_Synonym__c":"Excessive focal folding of myelin sheaths; Irregular myelin foldings","HPO_Name__c":"Myelin outfoldings","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601382","Feature__r":{"HPO_Description__c":"An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006958","HPO_Synonym__c":"Abnormal brainstem auditory-evoked potentials","HPO_Name__c":"Abnormal auditory evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601382","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:601382","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":"OMIM:601382","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601382","Feature__r":{"HPO_Description__c":"Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007208","HPO_Name__c":"Irregular myelin loops","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601382","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601382","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":"OMIM:601382","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":"OMIM:601382","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601382","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b1"," charcot-marie-tooth disease type 4 caused by mutation in mtmr2"," charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1"," charcot-marie-tooth disease, demyelinating, type 4b1"," charcot-marie-tooth disease, type 4b"," charcot-marie-tooth neuropathy type 4b1"," charcot-marie-tooth neuropathy type 4b1 (cmt4b1)"," cmt4b1"," mtmr2 charcot-marie-tooth disease type 4"]}