The best and most effective way to treat any condition is by getting an accurate diagnosis as soon as possible. When a physician misdiagnoses a condition, it creates a situation for the patient and his family where essential treatment may be delayed. This can worsen the patient’s physical situation and cause further damage. This is the case with cerebral palsy and other disabling conditions.
Over the years, medical experts have compiled action lists as a way of facilitating the diagnostic procedure. These lists allow doctors, parents and care workers to work in tandem to establish an accurate diagnosis. First, one needs to take an inventory of detailed observations from the parents/primary caretakers. Following that clinical examinations have to be held. Motor skill developments should be analyzed (i.e., what is missing, what is in place) and thereafter a medical history of the patient should be documented. Caretakers should also look for any other potentially associative conditions, and with that information try to eliminate other possible conditions. The next step is getting the test results which should lead to a diagnosis. It is also often advisable to get a second opinion at this point too. At this point some caretakers also seek to figure out a possible cause. Once all this data has been garnered, a care team should be assembled that will determine an ongoing care plan.
The other potentially problematic issue vis-à-vis obtaining an accurate cerebral palsy diagnosis is the existence of a variety of disorders which may initially look like cerebral palsy that are not. For example, individuals with severe muscle weakness, might actually have one of the following conditions: Duchenne/Becker muscular dystrophy, Infantile neuroaxonal dystrophy, Mitochondrial cytopathy (as opposed to cerebral palsy). Parents and diagnosticians should also be aware that when there is predominant diplegia/tetraplegia, cerebral palsy might not be the reason. Instead, it could be: Adrenoleucodystrophy, adrenomyeloneuropathy, Arginase deficiency, Hereditary progressive spastic paraplegia, Holocarboxylase synthetase deficiency or Metachromatic leucodystrophy.
When a patient shows significant dystonia or involuntary movements, there are a variety of possible causes. These include: Dopa responsive dystonia, Pyruvate dehydrogenase deficiency (and other mitochondrial cytopathies presenting with a Leigh syndrome phenotype), Rett syndrome, 3-methylglutaconic aciduria, 3-methylcrotonyl CoA carboxylase deficiency, Glutaric aciduria type 1, Juvenile neuronal ceroid lipofuscinosis, Pelizaeus–Merzbacher disease, or Lesch–Nyhan syndrome. And when displaying signs of substantial ataxia, the patient could have: Angelman syndrome, Ataxia telangiectasia, Chronic/adult GM 1 gangliosidosis, 18 Mitochondrial cytopathy (specifically due to the NARP mutation), Niemann–Pick disease type C, Pontocerebellar atrophy/hypoplasia (in isolation or as part of the carbohydrate glycoprotein deficiency syndrome), Posterior fossa tumor, or X linked spinocerebellar ataxia.
To receive a correct diagnosis of cerebral palsy the above criteria should be studied and implemented by all care takers and physicians.