{"Name":"Charcot-Marie-Tooth disease recessive intermediate A","DiseaseID__c":"GARD:0012453","id":12453,"encodedName":"charcot-marie-tooth-disease-recessive-intermediate-a","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease recessive intermediate A","Xref_IDs__c":"C1842197; C564256; DOID:0110201; MEDGEN:334012; MONDO:0012014; OMIM:608340; ORPHA:217055","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":1,"Description_Source__c":"MONDO:0012014","Disease_Description__c":"A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.","GARD_Name__c":"Charcot-Marie-Tooth disease recessive intermediate A","GARD_Synonym__c":"autosomal recessive intermediate charcot-marie-tooth disease type a; charcot-marie-tooth disease caused by mutation in gdap1; charcot-marie-tooth disease recessive intermediate type a; charcot-marie-tooth disease, recessive intermediate type a; charcot-marie-tooth neuropathy recessive intermediate a; charcot-marie-tooth neuropathy, recessive intermediate a; cmtria; gdap1 charcot-marie-tooth disease; ri-cmt type a; ri-cmta","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a peripheral neuropathy. It typically affects the lower extremities earlier and more severely than the upper extremities. Clubfoot (inward turning of the foot) is a common feature. As the disease progresses, the hands also become severely affected. Vocal cord paresis leading to a hoarse voice is common. Age at onset is typically in early childhood. Disease progression causing disabilities within the first or second decade of life. By the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. This condition is caused by mutations in the GDAP1 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:217055","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0012014","ORPHANET_ID__c":"ORPHA:217055","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica recesiva tipo a","Spanish_Description_Source__c":"ORPHA:217055","Spanish_Description__c":"Es un subtipo de la enfermedad de Charcot-Marie-Tooth (CMT) intermedia autosómica recesiva , que cursa de forma grave en la infancia temprana, con una destacada malformación en equinovaro y discapacidad de los músculos de la mano. Las velocidades de conducción nerviosa suelen oscilar entre 25 y 35 m/s y, en la patología del nervio periférico, se observan alteraciones tanto axonales como desmielinizantes.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica recesiva tipo a","Spanish_GARD_Synonym__c":"ri-cmt tipo a","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 recessive intermediate Charcot-Marie-Tooth disease type A is a peripheral neuropathy. It typically affects the lower extremities earlier and more severely than the upper extremities. Clubfoot (inward turning of the foot) is a common feature. As the disease progresses, the hands also become severely affected. Vocal cord paresis leading to a hoarse voice is common. Age at onset is typically in early childhood. Disease progression causing disabilities within the first or second decade of life. By the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. This condition is caused by mutations in the GDAP1 gene.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"autosomal recessive intermediate charcot-marie-tooth disease type a; charcot-marie-tooth disease caused by mutation in gdap1; charcot-marie-tooth disease recessive intermediate type a; charcot-marie-tooth disease, recessive intermediate type a; charcot-marie-tooth neuropathy recessive intermediate a; charcot-marie-tooth neuropathy, recessive intermediate a; cmtria; gdap1 charcot-marie-tooth disease; ri-cmt type a; ri-cmta","Name":"Charcot-Marie-Tooth disease recessive intermediate A","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.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":"Childhood","Provided_By__c":"ORPHA:217055"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1842197"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1539","Xref__c":"NBK1539"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1358","Source__c":"Gene Review","Xref__c":"NBK1358"},{"URL__c":"https://www.omim.org/entry/608340","Source__c":"C1842197; MONDO:0012014; ORPHA:217055","Xref__c":"OMIM:608340"},{"URL__c":"https://www.orpha.net/en/disease/detail/217055","Source__c":"C1842197; MONDO:0012014","Xref__c":"ORPHA:217055"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334012","Source__c":"C1842197","Xref__c":"MEDGEN:334012"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842197","Source__c":"C1842197","Xref__c":"C1842197"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564256","Source__c":"MONDO:0012014","Xref__c":"C564256"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110201","Source__c":"MONDO:0012014","Xref__c":"DOID:0110201"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012014","Source__c":"GARD:0012453","Xref__c":"MONDO:0012014"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDAP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608340","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608340","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003383","HPO_Name__c":"Onion bulb formation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608340","Feature__r":{"HPO_Description__c":"Reduced strength and weakness of the muscles of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003690","HPO_Synonym__c":"Limb muscle weakness; Limb weakness","HPO_Name__c":"Limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608340","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":"OMIM:608340","HPO_Frequency__c":"Very frequent (80-99%)","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:608340","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:608340","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034045","HPO_Synonym__c":"Angular muscle fibers","HPO_Name__c":"Angulated muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608340","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003803","HPO_Synonym__c":"Type I muscle fiber predominance","HPO_Name__c":"Type 1 muscle fiber predominance","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608340","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:608340","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:608340","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:608340","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:608340","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033685","HPO_Name__c":"Fiber type grouping","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608340","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:608340","HPO_Frequency__c":"Very frequent (80-99%)","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:608340","Feature__r":{"HPO_Description__c":"The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003445","HPO_Synonym__c":"EMG: neurogenic abnormalities; EMG: neurogenic changes; EMG: neurogenic findings","HPO_Name__c":"EMG: neuropathic changes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"OMIM:608340","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":"OMIM:608340","HPO_Frequency__c":"Very frequent (80-99%)","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:608340","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":"OMIM:608340","Feature__r":{"HPO_Description__c":"An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001178","HPO_Name__c":"Ulnar claw","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608340","HPO_Frequency__c":"Very frequent (80-99%)","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:608340","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003484","HPO_Synonym__c":"Decreased arm strength; Weak arm","HPO_Name__c":"Upper 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":["autosomal recessive intermediate charcot-marie-tooth disease type a"," charcot-marie-tooth disease caused by mutation in gdap1"," charcot-marie-tooth disease recessive intermediate type a"," charcot-marie-tooth disease, recessive intermediate type a"," charcot-marie-tooth neuropathy recessive intermediate a"," charcot-marie-tooth neuropathy, recessive intermediate a"," cmtria"," gdap1 charcot-marie-tooth disease"," ri-cmt type a"," ri-cmta"]}