Sterol carrier protein 2 deficiency

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.

Also known as: SCP2 deficiency, leukoencephalopathy-dystonia-motor neuropathy syndrome, sterol carrier protein 2 deficiency, LKDMN, leukoencephalopathy - dystonia - motor neuropathy, leukoencephalopathy with dystonia and motor neuropathy

2 clinical trials for this condition and its sub-types.