Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Cerebellar atrophy

Atrophy (wasting) of the cerebellum.


Total: 1

                      


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PMID (PMCID)
18695064
MIXED_SAMPLE
Response of motor complications in Cockayne syndrome to carbidopa-levodopa.
Neilan EG, Delgado MR, Donovan MA, Kim SY, Jou RL, Wu BL, Kang PB.
Arch Neurol. 2008;65(8):1117-21.
Gait difficulties, tremors, and coordination difficulties are common features of Cockayne syndrome that are consequences of leukodystrophy, cerebellar atrophy, and demyelinating neuropathy, but no pharmacotherapy for these disabling symptoms is available.