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.

Human brain illustrated with millions of small nerves. Ars Electronica on Flikr.
Human brain illustrated with millions of small nerves. Ars Electronica on Flikr.


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


 17q deletion syndrome 

4H Syndrome

Alpers syndrome

Adult polyglucosan body disease

Alexander disease


Benign hereditary chorea

Barth syndrome

Biotin responsive basal ganglia disease

Brown-Vialetto Von-Laere (BVVL) syndrome

Brody disease


Calsequestrin storage myopathy

Coffin Lowry syndrome 

Congenital cataracts facial dysmorphism neuropathy (CCFDN)

Curranino syndrome


CANVAS syndrome

Cerebrotendinous xanthomatosis (CTX)


Danon disease

Doose syndrome

Dentatorubral pallidolyusian atrophy (DRPLA)


Facial onset sensory and motor neuronopathy (FOSMN)

Fatal familial insomnia (FFI)

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)

Joubert syndrome

Kufor Rakeb


Landau Kleffner syndrome

Lafora body disease

Menke’s disease

Miller Dieker syndrome


Myofibrillar myopathy

Melkersson Rosenthal syndrome

Nasu Hakola disease

Nemaline myopathy

Neuronal ceroid lipofuscinosis (NCL)

Neuro Sweet syndrome

Brian v.2. Amy Leonard on Flikr.
Brian v.2. Amy Leonard on Flikr.



Ornithine transcarbamylase (OTC) deficiency

Ohtahara syndrome

Panayiotopoulos syndrome (PS) 

Pantethonate kinase associated neurodegeneration (PKAN)

Perry syndrome

Potassium aggravated myotonias

Progressive encephalomyelitis rigidity and myoclonus (PERM)

Pyridoxine-responsive epileptic encephalopathy

Pelizaeus Marzbacher disease 

PHARC syndrome

Pourfour du petit syndrome


Rapid onset dystonia parkinsonism (RDP)

Refsum’s disease

Rippling muscle disease (RMD)

Raeder’s paratrigeminal syndrome

Rett syndrome


Sandhoff disease

Satoyoshi syndrome

Schwartz Jampel syndrome

Sepiapterin deficiency

SEPN-1 related myopathy 

Sialic acid storage diseases

Sjogren Larsson syndrome



Tangier disease

Tarui disease

Tyrosine hydroxylase deficiency (THD)

Unverricht Lundborg disease

Vici syndrome

Wolf Hirschhorn syndrome

Woodhouse Sakati syndrome

Zellweger syndrome


Arteries of the brain. Adrigu on Flikr
Arteries of the brain. Adrigu on Flikr



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.

Neurochecklists image

6 thoughts on “What strange and rare diseases lurk within neurology?

  1. 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

    ( )


    1. 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.


  2. 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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