Hereditary disorders with associated neuropathy

A-G

• Achalasia, hypo adrenalism, alacrima syndrome (AAAS)
• Aicardi-Goutieres syndrome 
• Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
• Brown-Vialetto-Van Laere syndrome (BVVL)
• Chediak-Higashi syndrome
• Chorea acanthocytosis
• Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome
• Congenital insensitivity to pain syndromes
• Dominant optic atrophy (DOA)
• Early-onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH)
• Goldberg-Shprintzen megacolon syndrome: associated with Hirschprung disease
• Gonadal dysgenesis with minifascicular neuropathy syndrome

H-X

References

1. Amato AA, Russell JA. Neuromuscular Disorders. McGraw Hill New York 2008 Chapter 10.
2. Ropper AH, Brown RH. Principles of Neurology Eighth edition. McGraw Hill New York 2005 pp1153-1161.
3. Rossor AM, Carr AS, Devine H, et al. Peripheral neuropathy in complex inherited diseases: an approach to diagnosis. JNNP 2017; 88:846-863.
4. Walter MC, Bernert G, Zimmermann U, et al. Long-term follow-up in patients with CCFDN syndrome. Neurology 2014; 83:1337-1344.

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