Classically, children with NPC may initially present with delays in reaching normal developmental milestones skills before manifesting cognitive decline (dementia).Neurological signs and symptoms include cerebellar ataxia (unsteady walking with uncoordinated limb movements), dysarthria (slurred speech), dysphagia (difficulty in swallowing), tremor, epilepsy (both partial and generalized), vertical supranuclear palsy (upgaze palsy, downgaze palsy, saccadic palsy or paralysis), sleep inversion, gelastic cataplexy (sudden loss of muscle tone or drop attacks), dystonia (abnormal movements or postures caused by contraction of agonist and antagonist muscles across joints), most commonly begins with inturning of one foot when walking (action dystonia) and may spread to become generalized, spasticity (velocity dependent increase in muscle tone), hypotonia, ptosis (drooping of the upper eyelid), microcephaly (abnormally small head), psychosis, progressive dementia, progressive hearing loss, bipolar disorder, major and psychotic depression that can include hallucinations, delusions, mutism, or stupor.In the terminal stages of Niemann–Pick type C disease, the patient is bedridden, with complete ophthalmoplegia, loss of volitional movement and severe dementia. Genetics
Approximately 95% of Niemann–Pick type C cases are caused by genetic mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene, referred to as type C2. The clinical manifestations of types Niemann–Pick types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes. The NPC1 gene is located on chromosome 18 (18q11-q12) and was described by researchers at the National Institutes of Health in July 1997.
A "fakie" trick is performed while riding backwards but taking off on the front foot. Although it is the same foot that jumps in ones traditional stance, it is normally the back foot. A rider can also land in the fakie position. While there are some parallels between switch stance and fakie, riding switch implies opening the shoulders more to face the direction headed, though not as much as in traditional stance, while fakie stance implies a slightly more backwards facing, closed shoulder posture. "Nollie" (nose ollie) is when the front foot takes off when one is riding in their normal stance, the same foot that jumps when doing tricks switch. In nollie position, the body and shoulders are facing forward as much as when riding in normal stance. Generally fakie and nollie are done off the nose, whereas normal and switch are done off the tail. In skateboarding, most tricks that are performed riding backwards — with respect to the riders preferred stance — are exclusively categorized as "switch" (in a switch stance) or as fakie, with the general rule that tricks off the tail are almost always described as fakie, and those off the nose are nollie. For example, a jump using the tail rolling backwards is a "fakie ollie" (not a "switch nollie"), and a jump off the nose is a "nollie" (not a "fakie nollie"). Mongo foot
Mongo foot refers to the use of the riders front foot for pushing.