Table 1.

Clinical data on cases with DNA analysis

Patient	Presentation	Affected family members*	CK (a)	Clinical Course	Death
1 (Lacson case#1)	Female; respiratory distress at 7 weeks	Five siblings died <2 months age	20-fold	Respiratory insufficiency, progressive muscle rigidity	7 months
2 (Lacson case #3)	Male; Weak cry at 6 weeks followed by sudden death	5 month sibling	ND	Sudden death	6 weeks
3 (Lacson case #6)	Female; respiratory distress at 8 weeks	None	20-fold	Respiratory insufficiency	3 months
4	Female; neonatal apneic spells, respiratory distress at 2 months	2 month old brother; possible distant cousin with same surname	15-20 fold	Axial hypertonia, rigidity of abdominal wall, respiratory insufficiency	3 months
5	Male; respiratory distress at 11 weeks	One brother died at 3 months		Truncal rigidity; alive at 4 years on mechanical ventilation	-
6	Female; weakness and sleep apnea since birth	9 cousins died in early infancy; mother has mild myopathic symptoms but normal CK	25-fold	Diffuse hypertonia and weakness; mechanical ventilation	7.5 months
7	Female; respiratory distress	Cousins	ND	Rigidity of abdominal wall, respiratory insufficiency	3 months
8	Male; firm abdomen and viral pneumonia at 2 months	Cousins	ND	Sudden death	2 months

^*Except for mother of patient 6, none of the parents reported weakness or had weakness on examination.

CK, creatine kinase, (a) reported as relative increase above the upper normal limit ND, not done