Hereditary sensory and autonomic neuropathies — classification and clinical characteristics

  • D. Burg
  • G. Burg
  • D. Pongratz
Conference paper


Hereditary sensory and hereditary sensory and autonomic neuropathies (HSN or HSAN) are very rare conditions and inhomogeneous with respect to genetic and clinical features. Various disease entities have to be differentiated.

The most common disorder of this group of hereditary peripheral neuropathies is HSN type I with a great variability of age of onset and impairment of pain and temperature sensation as the main and earliest clinical signs. However, the diagnosis is usually not made before cutaneous alterations occur.

HSN II occurs in early childhood and reveals affection of all sensory qualities, mostly accompanied by prominent cutaneous and osseous alterations depending on the stress to which the denervated structures are subjected.

Whereas in HS(A)N I and II the autonomic denervation essentially affects skin structures, HSAN III is characterized by additional autonomic disturbances such as the regulation of body temperature, of heart and respiration, the intestinal tract and further more. Lack of tears in crying is suggested to be an obligate symptom.

In HSAN IV anhidrosis, episodes of fever, analgesia and impaired temperature sensation are crucial symptoms.

The term “hereditary sensory neuropathies” denotes a group of genetically determined neuropathies whose pathogenesis is still unclear. The most important clinical features are sensory and autonomic disturbances of variable predominance. The leading symptoms are marked impairment of pain and temperature sensation, particularly in fingers and toes, and a tendency to develop ulcerations and bony degeneration. More or less severe additional symptoms of peripheral or central origin that affect other sensory modalities or motor function contribute to further differentiation.


Autonomic Neuropathy Sensory Neuropathy Sensory Impairment Familial Dysautonomia Temperature Perception 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Axelrod FB, Abularrage JJ (1982) Familial dysautonomia: a prospective study of survival. J Pediatr 101: 234–236PubMedCrossRefGoogle Scholar
  2. 2.
    Beiglböck W(1938) Zum Erbgang der Trophoneurose. Wien Klin Wochenschr 48:1282–1285Google Scholar
  3. 3.
    Bhaskar PA (1986) Hereditary sensory neuropathy (HSN) type I with neurotrophic keratitis. J Assoc Physicians India 34: 379–381PubMedGoogle Scholar
  4. 4.
    Bogaert L van (1940) Sur les arthropathies mutilantes symétriques des extrémités inférieures et leurs rapports avec la syringomyélic. Presse méd 48: 1026–1032Google Scholar
  5. 5.
    Bowe BE, Levandovsky S, Eiferman RA (1989) Neurotrophic corneal ulcers in congenital sensory neuropathy. Am J Ophthalmol 107: 303–304PubMedGoogle Scholar
  6. 6.
    Bruns L (1903) Familiale symmetrische Gangrän und Akropathie an den Füßen, möglicherweise beruhend auf familialer Syringomyelic im Lumbosacralmark. Zentralbl Neurol 22: 599–601Google Scholar
  7. 7.
    Brunt PW, Mc Kusick VA (1970) Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature. Medicine 49: 343–374PubMedCrossRefGoogle Scholar
  8. 8.
    Bugiani O, Bogaert L van (1967) Sur la transformation dans le temps des phénotypes abiotrophiques. D’une hérédoataxie à l’acropathie ulcéromutilante. Psychiatr Neurol Neurochir 70: 281–304PubMedGoogle Scholar
  9. 9.
    Bureau Y, Barrière H (1955) Acropathies pseudo-syringomyéliques des membres inférieurs. Essai d’interprétation nosographique. Sem Hôp Paris 31: 1419–1429PubMedGoogle Scholar
  10. 10.
    Burg G, Burg D (1990) Das Bureau-Barrière-Syndrom. Phlebol Proktol 19: 147–152Google Scholar
  11. 11.
    Burke V (1966) Familial dysautonomia. Aust Paediat J 2: 58–63Google Scholar
  12. 12.
    Campbell AMG, Hoffmann HL (1964) Sensory radicular neuropathy associated with muscle wasting in two cases. Brain 87: 67–74PubMedCrossRefGoogle Scholar
  13. 13.
    Cavanagh NPC, Eames RA, Galvin RJ, Brett EM, Kelly RE (1979) Hereditary sensory neuropathy with spastic paraplegia. Brain 102: 79–94PubMedCrossRefGoogle Scholar
  14. 14.
    Denny-Brown D (1951) Hereditary sensory radicular neuropathy. J Neurol Neurosurg Psychiatry 14: 237–252PubMedCrossRefGoogle Scholar
  15. 15.
    Donaghy M, Hakin RN, Bamford JM, Garner A, Kirkby GR, Noble BA, Tazir-Melboucy M, King RHM, Thomas PK (1987) Hereditary sensory neuropathy with neurotrophic keratitis: description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies. Brain 110: 563–583PubMedCrossRefGoogle Scholar
  16. 16.
    Dyck PJ (1993) Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Griffin JW, Low PhA, Poduslo JF (eds) Peripheral neuropathy, vol 2. Saunders Company, Philadelphia London Toronto Montreal Sydney, pp 1557–1599Google Scholar
  17. 17.
    Dyck PJ, Kennel AJ, Magai IV, Kraybill EN (1965) A Virginia kinship with hereditary sensory neuropathy, peroneal muscular atrophy and pes cavus. Mayo Clin Proc 40: 685–694PubMedGoogle Scholar
  18. 18.
    Dyck PJ, Low PA, Stevens JC (1983) Burning feet as the only manifestation of dominantly inherited sensory neuropathy. Mayo Clin Proc 58: 426–429PubMedGoogle Scholar
  19. 19.
    Dyck PJ, Mellinger JF, Reagen TJ, Horowitz SJ, Mc Donald JW, Litchy WJ, Daube JR, Fealey RD, Go VL, Kao PC, Brimijoin WS, Lambert EH (1983) Not indifference to pain but varieties of hereditary sensory and autonomic neuropathy. Brain 106: 373–390PubMedCrossRefGoogle Scholar
  20. 20.
    Dyck PJ, Ohta M (1975) Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons. In: Dyck PJ, Thomas PK, Lambert EH (eds) Peripheral neuropathy. Saunders, Philadelphia London, pp 791–824Google Scholar
  21. 21.
    England AC, Denny-Brown D (1952) Severe sensory changes and trophic disorder in peroneal muscular atrophy (Charcot-Marie-Tooth type). Arch Neurol Psychiat 67: 1–22CrossRefGoogle Scholar
  22. 22.
    Fellner MJ (1964) Manifestations of familial autonomic dysautonomia. Arch Dermatol 89: 190PubMedCrossRefGoogle Scholar
  23. 23.
    Giaccai L (1952) Familial and sporadic neurogenic osteolysis. Acta Radiol (Stockh) 38: 17–29CrossRefGoogle Scholar
  24. 24.
    Göbell R, Runge W (1917) Eine familiäre Trophoneurose der unteren Extremitäten. Arch Psych 57: 297–364CrossRefGoogle Scholar
  25. 25.
    Guillain G, Thévenard A (1929) Mal perforant plantaire familial. Syringomyélic lombo-sacrée probable chez deux frères. Annales de médecine XXV: 267–274Google Scholar
  26. 26.
    Gyepes MT, Linde M (1968) Familial dysautonomia.The mechanism of aspiration. Radiology 91: 471–475Google Scholar
  27. 27.
    Head H (1903) Morvan’s disease. London Hospital Gazette. Clin [Suppl] 10: 5–7Google Scholar
  28. 28.
    Heller IH, Robb P (1955) Hereditary sensory neuropathy. Neurology 5: 15–29PubMedCrossRefGoogle Scholar
  29. 29.
    Hicks IP (1922) Hereditary perforating ulcer of the foot. Lancet 1: 319–321CrossRefGoogle Scholar
  30. 30.
    Jacob W, Schrader A, Wild H (1954) Klinische Beobachtungen zur Frage der sogenannten neurovasculären Dystrophie (ulcerierende Akropathie). Dtsch Z Nervenheilk 172: 309–320Google Scholar
  31. 31.
    Johnson RH, Spalding JMK (1964) Progressive sensory neuropathy in children. J Neurol Neurosurg Psychiatry 27: 125–130PubMedCrossRefGoogle Scholar
  32. 32.
    Jughenn H, Krücke W, Wadulla H (1949) Zur Frage der familiären Syringomyelic (klinisch-anatomische Untersuchungen über familiäre neuromuskuläre Dystrophie der Extremitäten). Archiv für Psychiatrie und Nervenkrankheiten 182: 153–176CrossRefGoogle Scholar
  33. 33.
    Keith CG (1965) The Riley-Day Syndrome. Br J Ophthalmol 49: 667–672PubMedCrossRefGoogle Scholar
  34. 34.
    Kondo K, Horikawa Y (1974) Genetic heterogeneity of the hereditary sensory neuropathy. Arch Neurol 30: 336–337PubMedCrossRefGoogle Scholar
  35. 35.
    Lee EL, Oh GC, Lam KL, Parameswaran N (1976) Congenital sensory neuropathy with anhidrosis: a case report. Pediatrics 57: 259–261PubMedGoogle Scholar
  36. 36.
    Low PA, Burke WJ, McLeod JG (1978) Congenital sensory neuropathy with selective loss of small myelinated fibres. Ann Neurol 3: 179–182PubMedCrossRefGoogle Scholar
  37. 37.
    Mandell AJ, Smith CK (1960) Hereditary sensory radicular neuropathy. Neurology 10: 627–630PubMedCrossRefGoogle Scholar
  38. 38.
    Mulvey BE, Riely LA (1942) Familial syringomyelia and status dysraphicus. Ann Intern Med 16: 966–994Google Scholar
  39. 39.
    Munro M (1956) Sensory radicular neuropathy in a deaf child. Br Med J 1: 541–544PubMedCrossRefGoogle Scholar
  40. 40.
    Murray TJ (1973) Congenital sensory neuropathy. Brain 96: 387–394PubMedCrossRefGoogle Scholar
  41. 41.
    Nélaton A (1852) Affection singulière des os du pied. Gaz Hôp (Paris) 4: 13Google Scholar
  42. 42.
    Nukada H, Pollock M, Haas LF (1982) The clinical spectrum and morphology of type II hereditary sensory neuropathy. Brain 105: 647–665PubMedCrossRefGoogle Scholar
  43. 43.
    O’Brien B, Jackson R, Tang Wai, Tang R, Lewis AJ, Atack EA (1980) Hereditary sensory neuropathy: a case with pain and temperature dissociation. Can J Neurol Sci 7: 33–76Google Scholar
  44. 44.
    Orbeck H, Oftedal G (1977) Familial dysautonomia in a non-jewish child. Acta Paediatr Scand 66: 777–781PubMedCrossRefGoogle Scholar
  45. 45.
    Ogryzlo MA (1946) A familial peripheral neuropathy of unknown etiology resembling Morvan’s disease. Can Med Assoc J 54: 547–553Google Scholar
  46. 46.
    Ogden TE, Robert F, Carmichael EA (1959) Some sensory syndromes in children: indifference to pain and sensory neuropathy. J Neurol Neurosurg Psychiatry 22: 267–276PubMedCrossRefGoogle Scholar
  47. 47.
    Partsch H (1978) Neuropathien vom ulzeromutilierenden Typ. Klinik, Klassifikation, Durchblutungsmessung. Vasa [Suppl] 6: 1–48Google Scholar
  48. 48.
    Partsch H, Washüttl J (1976) Malabsorption und Vitamin B1-Mangel bei familären ulzeromutilierenden Neuropathien. Wien Klin Wochenschr 88: 391–393PubMedGoogle Scholar
  49. 49.
    Pearson J (1979) Familial dysautonomia (a brief review). J Auton Nerv Syst 1: 119–126PubMedCrossRefGoogle Scholar
  50. 50.
    Pinsky L, DiGeorge AM (1966) Congenital familial sensory neuropathy with anhidrosis. J Pediatr 68: 1–13PubMedCrossRefGoogle Scholar
  51. 51.
    Planchon B, Mussini JM, Barrière H (1982) Neuro-Acropathie de Bureau-Barrière Etudes complémentaires et définition de l’état préacropathique. Ann Dermatol Venereol (Paris) 109: 249–253Google Scholar
  52. 52.
    Pollock M, Kies B (1990) Benign hereditary cerebellar ataxia with extensive thermoanalgesia. Brain 113: 857–865PubMedCrossRefGoogle Scholar
  53. 53.
    Rafel E, Alberca R, Bautista J, Navarrete M, Lazo J (1980) Congenital insensitivity to pain with anhidrosis. Muscle Nerve 3: 216–220PubMedCrossRefGoogle Scholar
  54. 54.
    Reich P, Weber I, Wolf K (1987) Beitrag zur Klinik der Akroosteopathia ulcero-mutilans. Dermatol Monatsschr 173: 135–140PubMedGoogle Scholar
  55. 55.
    Riley CM, Day RL, Greeley DM, Langford WS (1949) Central autonomic dysfunction with defective lacrimation. Report of five cases. Pediatrics 3: 468–478PubMedGoogle Scholar
  56. 56.
    Smith EM (1934) Familial neurotrophic osseous atrophy. J Am Med Assoc 8: 593–595CrossRefGoogle Scholar
  57. 57.
    Spillane JD, Wells CEC (1969) Acrodystrophic neuropathy. Oxford University Press, London New York TorontoGoogle Scholar
  58. 58.
    Swanson AG (1963) Congenital insensitivity to pain with anhidrosis. A unique syndrome in two male siblings. Arch Neurol 8: 299–306PubMedCrossRefGoogle Scholar
  59. 59.
    Tamari I, Goodman RM, Sarova I, Hertz M, Adar R, Zvibach T (1980) Autosomal recessive peripheral sensory neuropathy in 3 non-Ashkenazi Jewish families. J Med Genet 17: 424–429PubMedCrossRefGoogle Scholar
  60. 60.
    Tappeiner J (1964) Familiäre Akroosteolyse mit trophischen Hautgeschwüren. Wien Klin Wochenschr 76: 523–526PubMedGoogle Scholar
  61. 61.
    Thévenard A (1942) L’acropathie ulcéro-mutilante familiale. Rev Neurol 74: 193–212Google Scholar
  62. 62.
    Thévenard A (1953) L’acropathie ulcéro-mutilante familiale. Acta Neurol Belg 53: 1Google Scholar
  63. 63.
    Thévenard A, Coste M (1935) Syringomyélic lombo-sacrée familiale probable et spina bifida occulta sacré. Rev Neurol 63: 195–206Google Scholar
  64. 64.
    Thomas PK (1975) Peripheral neuropathy. In: Matthews WB (ed) Recent advances in clinical neurology. Churchill Livingstone, Edingburgh, pp 253–283Google Scholar
  65. 65.
    Van Epps C, Kerr HD (1940) Familial lumbosacral syringomyelia. Radiology 35: 160–173Google Scholar
  66. 66.
    Vassella F, Emrich HM, Kraus-Ruppert R, Aufdermaur F, Tonz O (1968) Congenital sensory neuropathy with anhidrosis. Arch Dis Child 43: 124–130PubMedCrossRefGoogle Scholar
  67. 67.
    Vésignié (d’Abbeville) (1852) Sur une affection singulière des os du pied. Gazette des hôpitaux 15: 58–60Google Scholar
  68. 68.
    Walker CHM (1955–56) Sensory radicular neuropathy. Gt Ormond Str J Nos 9–10: 72–80Google Scholar
  69. 69.
    Welton W, Clayson D, Axelrod F, Levine DB (1979) Intellectual development in familial dysautonomia. Pediatrics 63: 708–712PubMedGoogle Scholar
  70. 70.
    Whitaker JN, Falchuk ZM, Engel WK, Blaese RM, Strober W (1974) Hereditary sensory neuropathy, association with increased synthesis of Immunglobulin. Arch Neurol 30: 359–371PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Wien 1995

Authors and Affiliations

  • D. Burg
    • 1
  • G. Burg
    • 2
  • D. Pongratz
    • 3
  1. 1.Friedrich Baur-Institute of the Department of Internal MedicineUniversity of MunichMunichGermany
  2. 2.University of ZurichZurichSwitzerland
  3. 3.Friedrich-Baur InstituteGermany

Personalised recommendations