Neurologist spend most of their time treating many ‘mainstream’ disorders such as epilepsy and migraine. I discussed this in my previous post, what are the most iconic neurological disorders? Neurologists are however required to know many other diseases, often very rare and occasionally esoteric. Some of these diseases are so rare many neurologists haven’t heard of them, or only know about them in passing.
These rare diseases often creep up on us unawares. It is difficult, if not impossible, for any neurologist to confidently diagnose, investigate, treat, and monitor these rare diseases without digging deep and researching extensively. What are these rare disorders? To find out, I scoured neurochecklists and compiled this list. I have linked each to a reference for further study. Here then are my 75 rarest and strangest neurological diseases.
A-B
Adult polyglucosan body disease
Biotin responsive basal ganglia disease
Brown-Vialetto Von-Laere (BVVL) syndrome
C-D
Calsequestrin storage myopathy
Congenital cataracts facial dysmorphism neuropathy (CCFDN)
Cerebrotendinous xanthomatosis (CTX)
Dentatorubral pallidolyusian atrophy (DRPLA)
F-K
Facial onset sensory and motor neuronopathy (FOSMN)
Fragile X tremor ataxia syndrome (FXTAS)
Generalized epilepsy with febrile seizures plus (GEFS+)
Gerstmann Straussler Scheinker (GSS) syndrome
Hemiconvulsion hemiplegia (HH) syndrome
Hereditary myopathy with early respiratory failure (HMERF)
Jeavon’s syndrome (eyelid myoclonia with absences)
L-N
Neuronal ceroid lipofuscinosis (NCL)
O-P
Ornithine transcarbamylase (OTC) deficiency
Pantethonate kinase associated neurodegeneration (PKAN)
Potassium aggravated myotonias
Progressive encephalomyelitis rigidity and myoclonus (PERM)
Pyridoxine-responsive epileptic encephalopathy
R-S
Rapid onset dystonia parkinsonism (RDP)
Raeder’s paratrigeminal syndrome
T-Z
Tyrosine hydroxylase deficiency (THD)
PS1. If you are a loyal follower of the blog, you would have realised that I have discussed this topic previously as the most perplexing diseases that excite neurologists. I hope you have found the alphabetical order here more helpful.
PS2. Do you have a rare or strange disease not listed here? Please leave a comment.
PS3. Why not try Neurochecklists for the simplified, hands-on approach to these and other unusual neurological diseases.
Good day,
I am getting very frustrated when trying to respond to your posts.
Word Press insists on my making up a blog when all I am trying to do is comment.
My old email address is now non existent, so no matter whether I try and re-register or log in with new username and/or password, I’m not getting anywhere.
Please may I request assistance as I love your posts.
Thank you.
Lesley Donnelly
(lesmal@mweb.co.za )
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Dear Lesley
I’m glad you enjoy the posts and sorry to hear of the difficulty you have had posting comments. This comment however came through without any hitches; perhaps having a blog is not required but let me know if the problem persists and I will check with WordPress.
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Thank you! Have tried to reset username and password and hope from now on you can receive! I am always grateful for the information you provide… Sending wishes.
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Thanks for the encouragement Lesley
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I was looking to know more about neurologists. It is interesting to learn that they spend most of their time working with migraines and epilepsy. It is good to know that they know about other diseases as well. Something to consider would be to seek references when searching for a neurologist. This would help you to have a good medical experience when it comes to these problems.
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Thanks Jade. Neurologists indeed do a lot more than just migraine and epilepsy. The web-based app neurochecklists has references on the diverse range of neurological topics. https://www.neurochecklists.com/
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