{"Name":"Charcot-Marie-Tooth disease axonal type 2L","DiseaseID__c":"GARD:0012432","id":12432,"encodedName":"charcot-marie-tooth-disease-axonal-type-2l","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease axonal type 2L","Xref_IDs__c":"719513008; C1837552; DOID:0110174; MEDGEN:324826; MONDO:0012096; OMIM:608673; ORPHA:99945","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012096","Disease_Description__c":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.","GARD_Name__c":"Charcot-Marie-Tooth disease axonal type 2L","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease type 2l; autosomal dominant charcot-marie-tooth disease type 2l; charcot-marie-tooth disease type 2 caused by mutation in hspb8; charcot-marie-tooth disease, axonal, autosomal dominant, type 2l; charcot-marie-tooth neuropathy axonal type 2l; charcot-marie-tooth neuropathy type 2l; charcot-marie-tooth neuropathy, axonal, type 2l; cmt2l; hspb8 charcot-marie-tooth disease type 2","Curated_Disease_Description_Source__c":"ORPHA:99945","Curated_Disease_Description__c":"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:99945","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012096","ORPHANET_ID__c":"ORPHA:99945","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2l","Spanish_Description_Source__c":"ORPHA:99945","Spanish_Description__c":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora. En la única familia registrada hasta la fecha, el debut de esta variante se produce entre los 15 y los 33 años. Los pacientes presentan debilidad distal y simétrica de las extremidades inferiores y, ocasionalmente, de las manos, ausencia o reducción de los reflejos tendinosos, pérdida sensitiva distal en las piernas y, con frecuencia, pie cavo. Es de progresión lenta.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2l","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":"Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.","Curated_Disease_Description_Source__c":"ORPHA:99945","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease type 2l; autosomal dominant charcot-marie-tooth disease type 2l; charcot-marie-tooth disease type 2 caused by mutation in hspb8; charcot-marie-tooth disease, axonal, autosomal dominant, type 2l; charcot-marie-tooth neuropathy axonal type 2l; charcot-marie-tooth neuropathy type 2l; charcot-marie-tooth neuropathy, axonal, type 2l; cmt2l; hspb8 charcot-marie-tooth disease type 2","Name":"Charcot-Marie-Tooth disease axonal type 2L","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 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:99945"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99945"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1837552"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837552","Source__c":"C1837552","Xref__c":"C1837552"},{"URL__c":"https://www.omim.org/entry/608673","Source__c":"C1837552; MONDO:0012096; ORPHA:99945","Xref__c":"OMIM:608673"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324826","Source__c":"C1837552","Xref__c":"MEDGEN:324826"},{"URL__c":"https://www.orpha.net/en/disease/detail/99945","Source__c":"C1837552; MONDO:0012096","Xref__c":"ORPHA:99945"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110174","Source__c":"MONDO:0012096","Xref__c":"DOID:0110174"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719513008","Source__c":"MONDO:0012096","Xref__c":"719513008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012096","Source__c":"GARD:0012432","Xref__c":"MONDO:0012096"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HSPB8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hspb8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608673","HPO_Frequency__c":"Occasional (5-29%)","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:608673","Feature__r":{"HPO_Description__c":"Evidence of chronic denervation on electromyography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003444","HPO_Name__c":"EMG: chronic denervation signs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"OMIM:608673","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:608673","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:608673","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":"OMIM:608673","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:608673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007078","HPO_Name__c":"Decreased amplitude of sensory action potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:608673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced number of large myelinated nerve fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003387","HPO_Synonym__c":"Depletion of large myelinated fibers; Loss of large myelinated fibers; Loss of larger myelinated nerve fibers","HPO_Name__c":"Decreased number of large peripheral myelinated nerve fibers","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608673","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":"OMIM:608673","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:608673","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant axonal charcot-marie-tooth disease type 2l"," autosomal dominant charcot-marie-tooth disease type 2l"," charcot-marie-tooth disease type 2 caused by mutation in hspb8"," charcot-marie-tooth disease, axonal, autosomal dominant, type 2l"," charcot-marie-tooth neuropathy axonal type 2l"," charcot-marie-tooth neuropathy type 2l"," charcot-marie-tooth neuropathy, axonal, type 2l"," cmt2l"," hspb8 charcot-marie-tooth disease type 2"]}