whatthehey78 said:
I'm aware there are some other Neurologist who peruse this thread. I would appreciate any comments and or recommendations relative to my son's condition. I'm simply a concerned Dad and just trying to cover all the bases associated with his potential diagnosis and treatment. TIA!!!!!!!!!!!
I'm the other neurologist here, that I know of.
General thoughts:
1) The thing here that strikes us as odd is that you are describing more of a motor problem (dysfunction of muscles of speech and swallowing), whereas the diagnosis that is being suggested (primary progressive aphasia) is a problem with language and cognition, and is a form of frontotemporal dementia. People with PPA have difficulties expressing themselves via written language as well and usually there are issues with grammar and word-finding difficulties (paraphasias, e.g., not being able to come up with the word you want to say or using the wrong term). If all of this is normal in your son and he is solely having difficulty pronouncing words and swallowing, I would be skeptical of that diagnosis.
2) There can sometimes be overlap between certain conditions in these areas: for example, frontotemporal dementia and amyotrophic lateral sclerosis (ALS) occur as a complex in some cases.
3) ALS can begin with involvement of muscles affecting speech and swallowing (bulbar onset ALS)--I would want to know whether the neurologist tested any muscles in the face or tongue with a needle during the EMG (not all neurologists will be comfortable examining those muscles). Nonetheless, after 2 years most people with ALS would have involvement of the arms and legs as well.
4) A definite diagnosis of PPA, like most dementias, is generally only made at pathologic examination of the brain after life, in the context of a clinical history.
5) PET scan of the brain is useful in differentiating Alzheimer's disease from frontotemporal dementias, in many cases, based on what part of the brain is showing reduced activity. If the PET scan is entirely normal, on the other hand, both diagnoses are quite unlikely.
My
primary recommendation is that your son be seen at an academic neurology department (that is, one associated with a medical school), if that has not happened already. Primary progressive aphasia is not a common disease and I would be concerned about that diagnosis being rendered by a community (private practice) neurologist, in most cases--although certainly there are exceptions.
