Clinical Neuroscience

[Advances in the diagnostics of spinal muscular atrophy]

HERCZEGFALVI Ágnes1, KARCAGI Veronika2, TÍMÁR László2

NOVEMBER 20, 1997

Clinical Neuroscience - 1997;50(11-12)

[The three most common types of childhood spinal muscular atrophy (SMA) are type I or Werdnig Hoffmann disease, type II or intermediate form, and type III or Kugelberg-Welander disease. The clinical features of these three types are characteristic, profound limb hypotonia, wasting of muscles and areflexia. All three forms of SMA reveal an autosomal recessive mode of inheritance. The gene responsible for all three types of SMA is located on the long arm of chromosome 5 in the region of 5q11.2-913.3. Starting from 1993 blood samples were collected from 87 Hungarian families with all 3 types of SMA. DNA samples of all family members were analysed with the currently available highly informative microsatellite DNA markers in the locus 5q11.2 q13.3. Moreover, affected persons and their family members have been analysed for deletions of the survival of motor neuron gen (SMN). Prenatal diagnoses were performed in 28 cases at the request of the affected families. The possibility of prenatal diagnosis is a major step forward in helping these families, as the risk of recurrence of this devasting, untreatable disease is 25% in affected families.]

AFFILIATIONS

  1. Heim Pál Gyermekkórház Neurológiai Osztálya, Budapest
  2. Országos Közegészségügyi Intézet, Biokémiai, Humángenetikai és Teratológiai Osztály, Budapest

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