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.
MONDO:0019046
leukodystrophy
is_a
MONDO:0019233
disorder of peroxisomal beta oxidation
is_a
LKDMN
related
SCP2 deficiency
exact
leukoencephalopathy - dystonia - motor neuropathy
related
leukoencephalopathy-dystonia-motor neuropathy syndrome
exact
sterol carrier protein 2 deficiency
exact