{"Name":"Charcot-Marie-Tooth disease axonal type 2X","DiseaseID__c":"GARD:0017830","id":17830,"encodedName":"charcot-marie-tooth-disease-axonal-type-2x","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease axonal type 2X","Xref_IDs__c":"C5569024; DOID:0110176; MEDGEN:1800447; MONDO:0014726; OMIM:616668; ORPHA:466775","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":3,"Description_Source__c":"MONDO:0014726","Disease_Description__c":"Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene.","GARD_Name__c":"Charcot-Marie-Tooth disease axonal type 2X","GARD_Synonym__c":"arcmt2x; autosomal recessive axonal charcot-marie-tooth disease type 2x; autosomal recessive charcot-marie-tooth disease type 2 due to spg11 (spg11 vesicle trafficking associated, spatacsin) mutation; autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation; autosomal recessive charcot-marie-tooth disease type 2x; charcot-marie-tooth disease caused by mutation in spg11; charcot-marie-tooth disease, axonal, autosomal recessive, type 2x; charcot-marie-tooth disease, axonal, type 2x; charcot-marie-tooth neuropathy type 2x; charcot-marie-tooth neuropathy, type 2x; cmt2x; spg11 charcot-marie-tooth disease","Curated_Disease_Description_Source__c":"ORPHA:466775","Curated_Disease_Description__c":"A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.","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:466775","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014726","ORPHANET_ID__c":"ORPHA:466775","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica recesiva tipo 2x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica recesiva tipo 2x","Spanish_GARD_Synonym__c":"arcmt2x; cmt2x; enfermedad de charcot-marie-tooth autosómica recesiva tipo 2 por una mutación en el gen spg11","Category_Linearization__c":"ORPHA:98036","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 autosomal recessive axonal hereditary motor and sensory neuropathy characterized by childhood to adult onset of slowly progressive, sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.","Curated_Disease_Description_Source__c":"ORPHA:466775","GARD_Synonym__c":"arcmt2x; autosomal recessive axonal charcot-marie-tooth disease type 2x; autosomal recessive charcot-marie-tooth disease type 2 due to spg11 (spg11 vesicle trafficking associated, spatacsin) mutation; autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation; autosomal recessive charcot-marie-tooth disease type 2x; charcot-marie-tooth disease caused by mutation in spg11; charcot-marie-tooth disease, axonal, autosomal recessive, type 2x; charcot-marie-tooth disease, axonal, type 2x; charcot-marie-tooth neuropathy type 2x; charcot-marie-tooth neuropathy, type 2x; cmt2x; spg11 charcot-marie-tooth disease","Name":"Charcot-Marie-Tooth disease axonal type 2X","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/"}],"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":"Adult","Provided_By__c":"ORPHA:466775"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:466775"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:466775"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110176","Source__c":"MONDO:0014726","Xref__c":"DOID:0110176"},{"URL__c":"https://www.orpha.net/en/disease/detail/466775","Source__c":"C5569024; MONDO:0014726; ORPHA:466775","Xref__c":"ORPHA:466775"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800447","Source__c":"C5569024","Xref__c":"MEDGEN:1800447"},{"URL__c":"https://www.omim.org/entry/616668","Source__c":"C5569024; MONDO:0014726; ORPHA:466775","Xref__c":"OMIM:616668"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5569024","Source__c":"C5569024","Xref__c":"C5569024"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014726","Source__c":"GARD:0017830","Xref__c":"MONDO:0014726"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187563003","Source__c":"C5569024","Xref__c":"1187563003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SPG11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/spg11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616668","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":"OMIM:616668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of tremors that is triggered by holding a limb in a fixed position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002174","HPO_Name__c":"Postural tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008956","HPO_Synonym__c":"Amyotrophy involving the thigh; Amyotrophy of the thigh musculature; Proximal lower limb muscle atrophy; Thigh muscle atrophy; Wasting of thigh muscle","HPO_Name__c":"Proximal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","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:616668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to elicit tendon reflexes in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002522","HPO_Synonym__c":"Absent lower limb tendon reflexes; Areflexia in lower limbs; Areflexia of the lower limbs; Areflexia, lower limbs","HPO_Name__c":"Areflexia of lower limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","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":"OMIM:616668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002403","HPO_Name__c":"Positive Romberg sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006466","HPO_Name__c":"Ankle flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","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:616668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","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:616668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001239","HPO_Synonym__c":"Wrist contracture; Wrist flexion deformity","HPO_Name__c":"Wrist flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008959","HPO_Name__c":"Distal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","HPO_Frequency__c":"Frequent (30-79%)","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:616668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal leg muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008944","HPO_Synonym__c":"Lower leg amyotrophy; Lower limb degeneration; Muscle atrophy, lower limb, distal","HPO_Name__c":"Distal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616668","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009053","HPO_Synonym__c":"Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal","HPO_Name__c":"Distal lower limb 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":["arcmt2x"," autosomal recessive axonal charcot-marie-tooth disease type 2x"," autosomal recessive charcot-marie-tooth disease type 2 due to spg11 (spg11 vesicle trafficking associated, spatacsin) mutation"," autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation"," autosomal recessive charcot-marie-tooth disease type 2x"," charcot-marie-tooth disease caused by mutation in spg11"," charcot-marie-tooth disease, axonal, autosomal recessive, type 2x"," charcot-marie-tooth disease, axonal, type 2x"," charcot-marie-tooth neuropathy type 2x"," charcot-marie-tooth neuropathy, type 2x"," cmt2x"," spg11 charcot-marie-tooth disease"]}