Dopamine beta-hydroxylase deficiency

Table 2 Main clinical characteristics of DβH deficiency. Adapted from Robertson D et al., 1991 [13].

Feature	(%)
Severe orthostatic hypotension	100
Impaired ejaculation	100
Ptosis of eyelids	67
Complicated perinatal course	67
Nocturia	67
Hyperextensible/hyperflexible joints	50
High palate	50
Nasal stuffiness	50
Mild behavioral changes	33
Seizures (with hypotension)	33
Bradydactyly	33
Sluggish tendon reflexes	33
Weak facial musculature	33
Hypotonic skeletal muscles	33
Atrial fibrillation	16

ISSN: 1750-1172