Overview of neurological and
neuromuscular conditions

 

  1. Most common adult-onset neurological conditions are multifactorial in cause.
  2. A minority of adult-onset neurological conditions are inherited and due primarily to a mutation in a single
    gene (eg Huntington disease).
  3. Some genetic variations (polymorphisms) may be associated with a higher risk of developing certain
    neurological conditions.
  4. Testing for polymorphisms is currently only on a research basis and neither recommended nor available
    for routine use (eg ApoE4 in Alzheimer disease predisposition).
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Table 1

Examples of inherited adult onset neurological and neuromuscular conditions

Table 1

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Indications for referral

  1. Take a family history, noting family members believed to have the neurological condition or suggestive
    neurological symptoms. Where possible, the family history should cover three generations and include
    grandparents, uncles, aunts and cousins.
  2. Refer individuals or family members to Genetics Services or specialist neurogenetic services* where
    there are:
  3. Proven (clinically or by genetic testing) personal or family history of an inherited neurological or neuromuscular condition
  4. Personal features consistent with an inherited neurological or neuromuscular condition
  5. A suspicious family history:
  6. Two or more family members affected with apparently the same condition
  7. A significantly earlier age of onset than average
  8. Unusual aggregation of neurological diagnoses

 

* Not all States have a neurogenetics service or clinic. Contact Genetics Services to discuss the most appropriate clinic to refer to (see Contacts, support and testing).

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