000			01823caa a2200217 4500
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022			_a2582-4961
100			_aPrathima, S
245		0	_aNiemann-Pick Type C disease: A case report
260			_bAll India Institute of Speech and Hearing _c2014
270			_aAll India Institute of Speech and Hearing
270			_mprathi.slp@gmail.com
300			_a88-91
490			_vVolume 33
520			_aNiemann-Pick type C disease (NP-C) is a rare (1 in 120,000 live births), neurovisceral disorder due to massive lysosomal lipid storage. The mode of transmission of NP-C is autosomal, recessive with mutations most often in the NPC1 genes and sometimes in the NPC2 genes. The clinical ndings vary from neonatal period to adulthood and the severity of the disease depends on the neurological involvement. The most characteristic signs are vertical supranuclear gaze palsy, cerebellar ataxia, dysarthria, dysphagia, and progressive dementia. Other common features include cataplexy, epilepsy and dystonia. Comprehensive neurological, ophthal- mological evaluations and primary laboratory investigations are essential to diagnose the condition. The prognosis depends on the age of onset of the neurological manifestations. Symptomatic management of patients is most essential in these cases. This case report aims at proling the characteristic features of the disease in a female child of 9 years and empha- sizes on the utility of augmentative and alternative modes of communication
653			_aSupranuclear gaze palsy, profiling, augmentative, alternative, speech-language
700			_aPriya, M.B
773			_aJournal of All India Institute of Speech & Hearing
856			_uhttp://192.168.102.7/jaiish/index.php/aiish/article/view/804/494
942			_cFJAS _yFJAS
999			_c17686 _d17686