{"Name":"Charcot-Marie-Tooth disease type 4K","DiseaseID__c":"GARD:0017616","id":17616,"encodedName":"charcot-marie-tooth-disease-type-4k","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 4K","Xref_IDs__c":"765047006; C4225246; DOID:0110187; MEDGEN:895560; MONDO:0014733; OMIM:616684; ORPHA:391351","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014733","Disease_Description__c":"A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).","GARD_Name__c":"Charcot-Marie-Tooth disease type 4K","GARD_Synonym__c":"autosomal recessive demyelinating charcot-marie-tooth disease type 4k; autosomal recessive demyelinating charcot-marie-tooth neuropathy type 4k; charcot-marie-tooth disease type 4 caused by mutation in surf1; charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k; charcot-marie-tooth disease, demyelinating, type 4k; charcot-marie-tooth disease, type 4k; charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k; cmt4k; surf1 charcot-marie-tooth disease type 4; surf1-related charcot-marie-tooth disease type 4; surf1-related cmt4; surf1-related severe demyelinating charcot-marie-tooth disease; surf1, cytochrome c oxidase assembly factor related charcot-marie-tooth disease type 4","Curated_Disease_Description_Source__c":"MONDO:0014733","Curated_Disease_Description__c":"A subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:391351","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014733","ORPHANET_ID__c":"ORPHA:391351","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 4 asociada a surf1","Spanish_Description_Source__c":"ORPHA:391351","Spanish_Description__c":"Es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 4 caracterizada por el inicio en la infancia de neuropatía sensitivo-motora desmielinizante grave y progresiva que se manifiesta con debilidad muscular distal y atrofia de manos y pies, deterioro sensorial distal (vibración y pinchazo) de miembros inferiores, acidosis láctica, arreflexia y velocidades de conducción nerviosa motora gravemente reducidas (25 m/s o inferiores). Los afectados también pueden presentar cifoescoliosis, nistagmo, pérdida de audición, ataxia cerebelosa y/o anomalías en la resonancia magnética cerebral (lesiones putaminales y periacueductales).","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 4 asociada a surf1","Spanish_GARD_Synonym__c":"cmt4 asociada a surf1; cmt4k; enfermedad de charcot-marie-tooth desmielinizante grave asociada a surf1; enfermedad de charcot-marie-tooth tipo 4k","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 subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).","Curated_Disease_Description_Source__c":"MONDO:0014733","GARD_Synonym__c":"autosomal recessive demyelinating charcot-marie-tooth disease type 4k; autosomal recessive demyelinating charcot-marie-tooth neuropathy type 4k; charcot-marie-tooth disease type 4 caused by mutation in surf1; charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k; charcot-marie-tooth disease, demyelinating, type 4k; charcot-marie-tooth disease, type 4k; charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k; cmt4k; surf1 charcot-marie-tooth disease type 4; surf1-related charcot-marie-tooth disease type 4; surf1-related cmt4; surf1-related severe demyelinating charcot-marie-tooth disease; surf1, cytochrome c oxidase assembly factor related charcot-marie-tooth disease type 4","Name":"Charcot-Marie-Tooth disease type 4K","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/"}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial 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":"Childhood","Provided_By__c":"ORPHA:391351"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765047006","Source__c":"C4225246; MONDO:0014733","Xref__c":"765047006"},{"URL__c":"https://www.omim.org/entry/616684","Source__c":"C4225246; MONDO:0014733; ORPHA:391351","Xref__c":"OMIM:616684"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225246","Source__c":"C4225246","Xref__c":"C4225246"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=895560","Source__c":"C4225246","Xref__c":"MEDGEN:895560"},{"URL__c":"https://www.orpha.net/en/disease/detail/391351","Source__c":"C4225246; MONDO:0014733; ORPHA:391351","Xref__c":"ORPHA:391351"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110187","Source__c":"MONDO:0014733","Xref__c":"DOID:0110187"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014733","Source__c":"GARD:0017616","Xref__c":"MONDO:0014733"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SURF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/surf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616684","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":"OMIM:616684","Feature__r":{"HPO_Description__c":"Increased susceptibility to fatigue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003388","HPO_Name__c":"Easy fatigability","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616684","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":"OMIM:616684","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616684","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616684","Feature__r":{"HPO_Description__c":"A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011096","HPO_Synonym__c":"Demyelination","HPO_Name__c":"Peripheral demyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616684","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616684","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":"OMIM:616684","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616684","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616684","Feature__r":{"HPO_Description__c":"A reduction in the number of axons in the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003447","HPO_Name__c":"Axonal loss","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616684","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616684","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616684","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial","Peripheral Neuropathy"]},"synonyms":["autosomal recessive demyelinating charcot-marie-tooth disease type 4k"," autosomal recessive demyelinating charcot-marie-tooth neuropathy type 4k"," charcot-marie-tooth disease type 4 caused by mutation in surf1"," charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k"," charcot-marie-tooth disease, demyelinating, type 4k"," charcot-marie-tooth disease, type 4k"," charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k"," cmt4k"," surf1 charcot-marie-tooth disease type 4"," surf1-related charcot-marie-tooth disease type 4"," surf1-related cmt4"," surf1-related severe demyelinating charcot-marie-tooth disease"," surf1, cytochrome c oxidase assembly factor related charcot-marie-tooth disease type 4"]}