Leukoencephalopathy - dystonia - motor neuropathy
Alternate names[edit | edit source]
STEROL CARRIER PROTEIN 2 DEFICIENCY; Leukoencephalopathy with dystonia and motor neuropathy; Leukoencephalopathy-dystonia-motor neuropathy syndrome
Definition[edit | edit source]
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.
NIH genetic and rare disease info[edit source]
Leukoencephalopathy - dystonia - motor neuropathy is a rare disease.
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