Mindy Says Oh Shaba to Niemann Pick

Mindy has Niemann Pick Type C Disease. refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage disease (LSDs). Niemann Pick diseases are classified in a subgroup of LSDs called sphingolipidoses or  lipid storage disorders in which harmful quantities of a fatty substances, called lipids, accumulate in the spleen, liver, lungs,bone marrow, and brain.

Symptoms may be related to the organs in which they accumulate. Enlargement of the liver and spleen (hepatosplenomegaly) may cause reduced appetite, abdominal distension and pain, and the enlarged spleen may trap platelets and other blood cells, leading to reduced numbers of these cells in the circulation. Storage in specific areas of the nervous system, causes specific symptoms. For example, storage in the cerebullum causes unsteady gait (ataxia), slurring of speech (dysathria) and incoordinated swallowing (dysphagia).  Basal ganglia dysfunction causes abnormal posturing of the limbs, trunk and face (dystonia) and upper brainstem disease causes impaired voluntary rapid eye movements (supranuclear gaze palsy) and sleep related disorders, including gelastic cataplexy (sudden loss of muscle tone associated with laughter), and sleep inversion (sleepiness during the day and wakefulness at night). More widespread disease involving the cerebral cortex and subcortical structures is responsible for gradual loss of intellectual abilities causing dementia  and seizures. Also known to be very deadly.