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Congenital severe generalized muscle hypertonia during wakefulness: A distinct autosomal recessive disorder
Author(s) -
Cantú J. M.,
Cuéllar A.
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb00627.x
Subject(s) - hypertonia , medicine , muscle hypotonia , respiratory distress , pediatrics , psychomotor disorder , chorea , disease , hypotonia , anesthesia , psychomotor learning , cognition , psychiatry
Congenital, severe, generalized muscle hypertonia during wakefulness, and normotonia during sleep were observed in a male infant, and were indirectly ascertained to have been present in six out of his 19 sibs. The neuromuscular impairment produced fetal hypokinesia, pharyngoesophageal dyskinesia and cardiopulmonary distress. The latter characteristic, further complicated by bronchopneumonia non‐responsive to therapy, seems to have led to the infants' early deaths (between 2 and 4 months of age). Another feature was the presence of umbilical herniae. The pedigree data were consistent with an autosomal recessive pattern of inheritance. This disease does not seem to have been described previously.