A family in which both Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy occurred, with apparent autosomal dominant inheritance, is reported from the Department of Neurology, Mayo Clinic Jacksonville, FL and Johns Hopkins University School of Medicine, Baltimore, MD. The female proband developed symptoms of Werdnig-Hoffmann disease at 2 months of age and died at 10 months. The proband’s father and his 2 brothers developed bilateral progressive atrophy and weakness of the hands and legs in their second decade of life. The mother had no symptoms or signs of motor neuron disease, but EMG revealed distal denervation of the limbs. Family studies suggested autosomal dominant inheritance, although the Werdnig-Hoffmann disease may have been influenced by a maternally derived trait. [1]

COMMENT. Werdnig-Hoffmann disease is generally regarded as an autosomal recessive disorder with linkage to chromosome 5ql 1.2-13.3. Other studies have suggested genetic heterogeneity.

The prognosis of patients with Werdnig-Hoffmann disease and a clinical scoring system are evaluated by Russman BS et al [2]. The 7 criteria for a poor prognosis were poor movement in utero, presence of tongue fasciculation, a poor cry, inability to hold the head at 3 months, inability to roll over by 6 months, loss of function, and diaphragmatic breathing. Five patients with scores of 4-7 died prior to 15 months of age, while 1 patient with a score of 1 died at 31 years. Patients whose scores during the first 6 months of life were 0 or 1 are living and range in age from 3-27 years. Death prior to age 2-4 years is not invariable.

A unique presentation of neonatal adrenoleukodystrophy as a progressive spinal muscular atrophy is reported in 2 siblings who later developed the symptoms and signs of encephalopathy [3]. Peroxisomal diseases must be considered in the differential diagnosis of Werdnig-Hoffmann disease.