Presentation
Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and [orpha.net]
Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. [euro-libris.ro]
Musculoskeletal
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Foot Deformity
Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and [orpha.net]
Neurologic
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Paresis
Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and [orpha.net]
AXONAL, TYPE 2K CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS [ghr.nlm.nih.gov]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [euro-libris.ro]
Epidemiology
Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology. 2016;46(3):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6. Review. [ghr.nlm.nih.gov]