has material basis in germline mutation in SCP2 sterol carrier protein 2 deficiency https://www.malacards.org/card/leukoencephalopathy_with_dystonia_and_motor_neuropathy 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. GARD:0012471 LKDMN leukoencephalopathy - dystonia - motor neuropathy SCP2 deficiency leukoencephalopathy-dystonia-motor neuropathy syndrome MEDGEN:462340 NANDO:1200767 UMLS:C3150990 sterol carrier protein 2 deficiency MONDO:0013391 OMIM:613724 Orphanet:163684 leukodystrophy disorder of peroxisomal beta oxidation