{"Name":"Charcot-Marie-Tooth disease type 1E","DiseaseID__c":"GARD:0009190","id":9190,"encodedName":"charcot-marie-tooth-disease-type-1e","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 1E","Xref_IDs__c":"C3495591; C537986; DOID:0110153; MEDGEN:501212; MONDO:0007311; OMIM:118300; ORPHA:90658","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"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:0007311","Disease_Description__c":"A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the <i>PMP22</i> (17p12) gene. The disease severity depends on the particular <i>PMP22</i> mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.","GARD_Name__c":"Charcot-Marie-Tooth disease type 1E","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth neuropathy and deafness; charcot-marie-tooth disease and deafness; charcot-marie-tooth disease demyelinating type 1e; charcot-marie-tooth disease-deafness; charcot-marie-tooth disease-deafness syndrome; charcot-marie-tooth disease-hearing loss syndrome; charcot-marie-tooth disease, demyelinating, type 1e; charcot-marie-tooth disease, type 1e; charcot-marie-tooth neuropathy and deafness, autosomal dominant; charcot-marie-tooth neuropathy type 1e; cmt1e","Curated_Disease_Description_Source__c":"GARD:0009190","Curated_Disease_Description__c":"Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes in the PMP22 gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:90658","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007311","ORPHANET_ID__c":"ORPHA:90658","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 1e","Spanish_Description_Source__c":"ORPHA:90658","Spanish_Description__c":"Esta entidad representa un subtipo poco frecuente de CMT1 caracterizado por una presentación clínica variable. La aparición precoz en los dos primeros años de vida asociada a retraso de la marcha no es inusual; sin embargo, puede debutar más tarde. La enfermedad está causada por mutaciones puntuales en el gen <i>PMP22</i> (17p12). La gravedad de la enfermedad depende de la mutación particular en <i>PMP22</i>, dándose algunos casos muy leves que se asemejan incluso a una neuropatía hereditaria con susceptibilidad a la parálisis por presión, mientras que otros tienen un inicio temprano con un fenotipo más grave (reminiscente del síndrome de Dejerine-Sottas) que el que se observa en la CMT1A causado por una duplicación del gen <i>PMP22</i>. Estos casos graves también pueden manifestar sordera y una velocidad de conducción nerviosa motora mucho más lenta en comparación con los pacientes clásicos con la CMT1A.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 1e","Spanish_GARD_Synonym__c":"cmt1e; síndrome de enfermedad de charcot-marie-tooth-hipoacusia; síndrome de enfermedad de charcot-marie-tooth-sordera","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 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes in the PMP22 gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0009190","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth neuropathy and deafness; charcot-marie-tooth disease and deafness; charcot-marie-tooth disease demyelinating type 1e; charcot-marie-tooth disease-deafness; charcot-marie-tooth disease-deafness syndrome; charcot-marie-tooth disease-hearing loss syndrome; charcot-marie-tooth disease, demyelinating, type 1e; charcot-marie-tooth disease, type 1e; charcot-marie-tooth neuropathy and deafness, autosomal dominant; charcot-marie-tooth neuropathy type 1e; cmt1e","Name":"Charcot-Marie-Tooth disease type 1E","estimateUsa":""}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"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:90658"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:90658"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861669"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009190","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537986","Source__c":"MONDO:0007311","Xref__c":"C537986"},{"URL__c":"https://www.omim.org/entry/118300","Source__c":"C3495591; MONDO:0007311; ORPHA:90658","Xref__c":"OMIM:118300"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110153","Source__c":"MONDO:0007311","Xref__c":"DOID:0110153"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501212","Source__c":"C3495591","Xref__c":"MEDGEN:501212"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3495591","Source__c":"C3495591","Xref__c":"C3495591"},{"URL__c":"https://www.orpha.net/en/disease/detail/90658","Source__c":"C3495591; MONDO:0007311","Xref__c":"ORPHA:90658"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007311","Source__c":"GARD:0009190","Xref__c":"MONDO:0007311"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PMP22","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pmp22","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete loss of hearing related to a sensorineural defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011476","HPO_Name__c":"Profound sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009473","HPO_Synonym__c":"Contractures involving the hands; Contractures of the hands","HPO_Name__c":"Joint contracture of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the muscuklature of the calf.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008962","HPO_Synonym__c":"Hypoplastic calf muscles; Underdeveloped calf muscles","HPO_Name__c":"Calf muscle hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","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":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009049","HPO_Synonym__c":"Peroneal atrophy","HPO_Name__c":"Peroneal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000360","HPO_Synonym__c":"Ringing in ears; Ringing in the ears","HPO_Name__c":"Tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the muscles of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009130","HPO_Synonym__c":"Amyotrophy involving the musculature of the hand; Amyotrophy of hand muscles; Hand muscle degeneration; Hand muscle wasting; Hand muscle wasting, bilateral","HPO_Name__c":"Hand muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030237","HPO_Synonym__c":"Hand muscle weakness","HPO_Name__c":"Hand muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to discriminate between different temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010829","HPO_Synonym__c":"Abnormality of temperature sensation; Impaired temperature sensation; Impaired thermal sensitivity; Loss of temperature sensation","HPO_Name__c":"Impaired temperature sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003376","HPO_Synonym__c":"High stepping","HPO_Name__c":"Steppage gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002600","HPO_Synonym__c":"Hyporeflexia in lower limbs; Hyporeflexia of the lower limbs; Hyporeflexia, lower limbs; Hyporeflexia/areflexia in lower limbs","HPO_Name__c":"Hyporeflexia of lower limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","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":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002141","HPO_Synonym__c":"Abnormality of balance; Abnormality of equilibrium; Imbalanced walk","HPO_Name__c":"Gait imbalance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008110","HPO_Name__c":"Equinovarus deformity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the pupil.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000615","HPO_Synonym__c":"Abnormal pupillary morphology; Abnormality of the pupil; Pupillary abnormalities; Pupillary abnormality","HPO_Name__c":"Abnormal pupil morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","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"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010832","HPO_Name__c":"Abnormality of pain sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced velocity and acceleration in the pupillary light response.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030211","HPO_Synonym__c":"Sluggish pupillary reaction; Sluggish pupillary reactions to light","HPO_Name__c":"Slow pupillary light response","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration in the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002166","HPO_Synonym__c":"Decreased lower limb vibratory sense; Decreased vibratory sense in lower limbs; Decreased vibratory sense in the lower extremities; Decreased vibratory sense in the lower limbs; Diminished vibratory sensation in the legs; Distal sensory loss, especially vibratory sense; Distal vibratory impairment of the lower limbs; Impaired vibration sensation in the lower limbs","HPO_Name__c":"Impaired vibration sensation in the lower limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the speed at which electrical signals propagate along the axon of a neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000762","HPO_Synonym__c":"Decreased NCV; Decreased nerve conduction velocities; Delayed nerve conduction velocity; Reduced nerve conduction velocities; Slow nerve conduction velocity; Slowed nerve conduction velocities","HPO_Name__c":"Decreased nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001765","HPO_Synonym__c":"Hammer toe; Hammertoe; Hammertoes","HPO_Name__c":"Hammertoe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012391","HPO_Name__c":"Hyporeflexia of upper limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009916","HPO_Synonym__c":"Asymmetric pupil sizes; Asymmetry of the pupils; Unequal pupil dilatation; Unequal pupil size","HPO_Name__c":"Anisocoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the peroneal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011727","HPO_Synonym__c":"Fibularis muscle weakness","HPO_Name__c":"Peroneal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","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":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031006","HPO_Name__c":"Acroparesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008124","HPO_Name__c":"Talipes calcaneovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012074","HPO_Synonym__c":"Adie pupil; Adie's tonic pupil","HPO_Name__c":"Tonic pupil","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007108","HPO_Name__c":"Demyelinating peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90658","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":"ORPHA:90658","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010830","HPO_Synonym__c":"Abnormal thigmesthesia; Impaired touch sensation; Loss of tactile sensation","HPO_Name__c":"Impaired tactile sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant charcot-marie-tooth neuropathy and deafness"," charcot-marie-tooth disease and deafness"," charcot-marie-tooth disease demyelinating type 1e"," charcot-marie-tooth disease-deafness"," charcot-marie-tooth disease-deafness syndrome"," charcot-marie-tooth disease-hearing loss syndrome"," charcot-marie-tooth disease, demyelinating, type 1e"," charcot-marie-tooth disease, type 1e"," charcot-marie-tooth neuropathy and deafness, autosomal dominant"," charcot-marie-tooth neuropathy type 1e"," cmt1e"]}