loading...| Preferred Name |
Charcot-Marie-Tooth disease dominant intermediate D |
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| Synonyms |
CMTDID Charcot-Marie-Tooth disease dominant intermediate type D autosomal dominant intermediate Charcot-Marie-Tooth disease type D Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD Charcot-Marie-Tooth disease, dominant Intermediate type D MPZ Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease caused by mutation in MPZ MPZ-related intermediate Charcot-Marie-Tooth neuropathy Di-Cmtd Charcot Marie Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease, dominant intermediate D Charcot-Marie-Tooth neuropathy, dominant Intermediate D |
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| Definitions |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0011909 |
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| has_exact_synonym |
CMTDID Charcot-Marie-Tooth disease dominant intermediate type D autosomal dominant intermediate Charcot-Marie-Tooth disease type D Charcot-Marie-Tooth neuropathy dominant intermediate D DI-CMTD Charcot-Marie-Tooth disease, dominant Intermediate type D MPZ Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease caused by mutation in MPZ |
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| has_related_synonym |
MPZ-related intermediate Charcot-Marie-Tooth neuropathy Di-Cmtd Charcot Marie Tooth disease dominant intermediate 3 Charcot-Marie-Tooth disease, dominant intermediate D Charcot-Marie-Tooth neuropathy, dominant Intermediate D |
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| label |
Charcot-Marie-Tooth disease dominant intermediate D |
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| prefixIRI |
MONDO:0011909 |
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| prefLabel |
Charcot-Marie-Tooth disease dominant intermediate D |
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| textual definition |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. |
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| subClassOf |