Lundberg syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Lundberg's syndrome is a very rare congenital disease with the main features of polyneuropathy , mental retardation , acromicria and early onset of menopause .

The name refers to the author of the first description from 1971 by the doctor PO Lundberg.

distribution

The frequency is given as less than 1 in 1,000,000, the cause is not yet known. The inheritance is presumably autosomal - recessive .

Clinical manifestations

Clinical criteria are:

  • Manifestation in adulthood
  • Decreased nerve conduction velocity
  • Unsteadiness
  • Micromelia (shortening of limbs)
  • premature ovarian failure

In addition to camptodactyly , truncal obesity and ulnar deviation of the fingers come.

There are abnormalities in electromyography .

Individual evidence

  1. ↑ a b c polyneuropathy - mental retardation - acromicria - premature menopause. In: Orphanet (Rare Disease Database).
  2. ^ PO Lundberg: Hereditary polyneuropathy, oligophrenia, premature menopause and acromicria. A new syndrome. In: European neurology. Vol. 5, No. 2, 1971, pp. 84-98, PMID 5117105 .
  3. ↑ Think Genetic
  4. ^ Rare Diseases

Web links