Neuropathy, hereditary sensory and autonomic, type I M89.8

Author: Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 17.12.2021

Dieser Artikel auf Deutsch


Acrodystrophy primary neuropathic; Acroosteolysis familial; Acroosteopathy ulcero-mutilans familiaris; Congenital sensory neuropathy; Familial acroosteolysis; Hereditary Sensitive Neuropathy Type I; HSN Type I; Nélaton syndrome; Neuropathy congenital sensory; OMIM 162400; OMIM 613640; primary neuropathic acrodystrophy; Thevenard's disease; Thévenard's disease; Thevenard Syndrome; Thévenard Syndrome

This section has been translated automatically.

Nelaton, 1852; Thévenard, 1942

This section has been translated automatically.

Degeneration of the peripheral nerves of the posterior spinal cord roots of unknown cause with consecutive polyneuropathy and appearance of painless, deep ulcerations on feet and hands.

This section has been translated automatically.

Autosomal dominant inheritance, low penetrance, variable expressivity. Mutations at the 9q22 gene locus(SPTLC1 gene) are among those discussed. Other families have been associated with mutations of the 14q24.3 gene locus (SPTLC2 gene). Both mutaions lead to different defect variants of the enzyme serine palmitoyltransferase (SPT).

This section has been translated automatically.

2nd to 3rd decade of life, rarely in childhood. Male sex preferred.

This section has been translated automatically.

Lower extremities, less pronounced also upper extremities.

Clinical features
This section has been translated automatically.

Symmetrically arranged, stocking-shaped sensory disturbances for pain, temperature and touch, occasionally pyramid signs (Babinski positive). Often weakened tendon reflexes. Painless ulcers, initially mostly on one side, later on both sides, especially in areas under pressure. Acrocyanosis and swelling of fingers and toes. Acroosteolyses, osteoporosis, possibly muscular atrophies, flat feet, splayfeet.

Differential diagnosis
This section has been translated automatically.

Syringomyelia, Acropathia ulcero-mutilans non-familiaris, Tabes dorsalis, leprosy, polyneuropathies (alcohol, diabetes mellitus, vitaminB1 deficiency); HSN type II;

This section has been translated automatically.

Symptoms: Avoidance of local mechanical stimuli and pressure points (e.g. orthopaedic shoes), instruction for daily detailed self-examination for the smallest injuries, treatment of the ulcers with anti-infectious and wound healing promoting substances, see below wound treatment. Cooperation with neurologists and orthopaedic surgeons.

This section has been translated automatically.

Slowly progressive course, usually relatively benign (no pronounced mutilations).

This section has been translated automatically.

  1. Auer-Grumbach M et al (2003) Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol 60: 329-334
  2. Auer-Grumbach M et al (2000) Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci. Neurology 54: 45-52
  3. Bejaoui K et al (2002) Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest 110: 1301-1308
  4. Bejaoui K et al (1999) Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosomes 9q22 Neurology 52: 510-515
  5. Bockers M et al (1989) Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion. Report of a family. J Am Acad Dermatol 21: 736-739
  6. Gable K et al (2002) Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase. J Biol Chem 277: 10194-10200
  7. Child R (1976) On the syndrome of acroosteopathy ulcero-mutilans Thévenard. Z Hautkr 51: 927-932
  8. Nélaton A (1852) Affection singulière des os du pied. Gazette des hôpitaux, (Paris) 4: 13
  9. Thévenard A (1942) L'acropathie ulcéro-mutilante familiale. Rev Neurol (Paris) 74: 193-212


Please ask your physician for a reliable diagnosis. This website is only meant as a reference.


Last updated on: 17.12.2021