General
- Is an autosomal recessive
- Mutations in the ATM gene
- Localized on chromosome 11
- Which normally plays a role in DNA damage repair
Number
- Symptoms typically present in infancy between the ages of 2 and 5
- Incidence of AT in the USA is approximately 1 in 88,000 live births,
- Most common cerebellar atrophy with progressive ataxia
Clinical features
- Predisposed to the development of Neoplasm
- Onset is in early childhood
- Initial:
- Postural instability and ataxia first becoming apparent as the child begins to walk.
- Later,
- Hypotonia, bradykinesia, areflexia, and proprioceptive deficits develop.
- Chorea may occasionally be seen.
- The eponymous telangiectasias develop later in childhood.
- Cutaneous telangiectasias,
- Higher risk to cancers (lymphoid malignancies),
- Radiosensitivity
- Immune deficiency
- Recurrent sinopulmonary infections,
- High levels of alpha-fetoprotein in serum
Clinically patients can present with
- Growth retardation
- Premature aging to insulin resistance to neurodegeneration.
Investigation
- EMG shows a sensory neuropathy
- MRI shows cerebellar atrophy
Prognosis
- Wheelchair bound by their second decade
- Death usually occurs in the fourth to fifth decade
- As a result of either pulmonary infection or malignancy.
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