A child with a spastic CP diagnosis will likely be referred to screening for other conditions associated with spastic cerebral palsy such as epilepsy (seizure disorder), intellectual disability, and visual impairment. Types
Scientific classifications
The types of spastic cerebral palsy are generally distinguished by the primary areas of the body that are affected. Spastic hemiplegia Hemiplegia is a type of cerebral palsy affecting one vertical half of the body (such as one arm and one leg). The affected side of the body is opposite the affected area of the brain in hemiplegia. For example, if the right side of the brain is damaged, the person will have weakness or paralysis on the left side of the body. People with hemiplegia typically favor an arm or hand and may keep the weaker hand in a fist. Typically, people that have spastic hemiplegia are the most ambulatory of all the forms, although they generally have dynamic equinus (a limping instability) on the affected side and are primarily prescribed ankle-foot orthoses to prevent said equinus. Spastic diplegia describes spastic CP in which muscle tightness predominantly occurs in the legs. The arms may be somewhat affected or not affected at all. Spastic monoplegia is one single limb being affected. Spastic triplegia is three limbs being affected. Spastic quadriplegia is all four limbs more or less equally affected. People with spastic quadriplegia are rarely able to ambulate without assistance and may not stand at all.
The diagnosis can be confirmed by identifying mutations in the NPC1 or NPC2 genes in 80–90% of cases. This specialized testing is available at Thomas Jefferson University Lysosomal Disease Testing Lab and the Mayo Clinic. Treatment
There is no known cure for Niemann–Pick type C, nor is there any FDA-standard approved disease modifying treatment. Supportive care is essential and substantially improves the quality of life of people affected by NPC. The therapeutic team may include specialists in neurology, pulmonology, gastroenterology, psychiatrist, orthopedics, nutrition, physical therapy and occupational therapy. Standard medications used to treat symptoms can be used in NPC patients. As patients develop difficulty with swallowing, food may need to be softened or thickened, and eventually, parents will need to consider placement of a gastrostomy tube (g-tube, feeding tube). Arimoclomol
In 2014, the European Medicines Agency (EMA) granted orphan drug designation to arimoclomol for the treatment of Niemann–Pick type C. This was followed in 2015 by the U.S. Food and Drug Administration (FDA). Dosing in a placebo-controlled phase II/III clinical trial to investigate treatment for Niemann–Pick type C (for patients with both type C1 and C2) using arimoclomol began in 2016. Arimoclomol, which is orally administered, induces the heat shock response in cells and is well tolerated in humans. In 2018, the Sponsor announced the trial did not meet either its primary or secondary endpoints. On July 17, 2021, the US Food and Drug Administration rejected the New Drug Application for Arimoclomol, and issued a complete response letter to the company Sponsor.