Leukoencephalopathy-dystonia-motor neuropathy syndrome
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis dystonic head tremor intention tremor nystagmus hyposmia and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus butterfly-like lesions in the pons and lesions in the occipital region whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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Leukoencephalopathy-dystonia-motor neuropathy syndrome?
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