Case Report: Oculomotor Palsy With Cyclic Spasms in a Patient With Charcot-Marie-Tooth Disease Type 1
نویسندگان
چکیده
Oculomotor palsy with cyclic spasms is an extremely rare condition whose exact pathophysiology remains a mystery. We followed boy from the onset of symptoms at age ten months until 15 years and documented case video oculography. In addition, he was diagnosed hereditary motor sensory neuropathy (Charcot-Marie-Tooth disease type 1). Although pure coincidence cannot be ruled out, it conceivable that underlying demyelinating this patient rendered oculomotor nerve more susceptible to damage.
منابع مشابه
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...
متن کاملCharcot-Marie-Tooth type 1A disease from patient to laboratory.
Charcot-Marie-Tooth (CMT) disease is a well-known neural or spinal type of muscular atrophy. It is the most familiar disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN). The disease was discovered by three scientists several years ago. Several genes are involved as the causative agents for the disease. Hundreds of causative mutations have been found and ...
متن کاملCharcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is the most prevalent peripheral inherited neuropathy (1/2500 to 10 000; 2.8/10 000 in Spain), and the mean age at onset is 16 years (range 2 to 50 years, but presentation in the early infancy and as late as the 80's has been reported). Patients present with motor and sensory polyneuropathic semiology (distal lower limb weakness and atrophy, gait abnormalities ...
متن کاملDNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A. The duplication was demonstrated in affected individuals by the presence of three alleles at a highly polymorphic locus, by dosage differences at RFLP alleles, and by ...
متن کاملCharcot-Marie-Tooth Disease Type 2.
No unique genes have yet been found for CMT2, but both Cx32 and P0 appear to contribute to the phenotype. Not surprisingly, CMT2 is likely to display much more genetic heterogeneity than CMT1. However, it is also likely continue to challenge previous concepts on classification and relationship of traditional inherited phenotypes in neurology. Future work on CMT2 should produce insight not only ...
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ژورنال
عنوان ژورنال: Frontiers in ophthalmology
سال: 2021
ISSN: ['2768-4121']
DOI: https://doi.org/10.3389/fopht.2021.748589