Table 3.

Age of Onset and Incidence of Common Features of Alström Syndrome

FeatureAge of Onset Range (Mean)Incidence 1
Cone-rod dystrophyBirth - 15 mos (5 mos) 2100%
ObesityBirth - 5 years (2.5 yrs)98%
Progressive SNHL2-25 yrs (9 yrs)88%
CardiomyopathyInfantile2 wks - 4 mos42% 3
RestrictiveJuvenile - late 30s18%
Insulin resistance / T2DM4-30 yrs / 8-40 yrs (16 yrs)92% / 68%
Short staturePuberty - adult98%
Hypogonadism (central or primary)10+ yrs78% of males
Urologic disease (bladder dysfunction)Adolescence - adult48%
Progressive renal diseaseAdolescence - adultVariably progressive in all individuals
Hepatic disease8-30 yrs23%-100%

Based on a study of 182 patients by Marshall et al [2005]

SNHL = sensorineural hearing loss; T2DM = type 2 diabetes mellitus

1.

Given the age-dependent nature of many features of Alström syndrome, percentages are not exact and may be underestimates.

2.

Rare individuals with atypical later onset and milder retinal dystrophy are reported.

3.

The proportion of infants with Alström syndrome who develop infantile-onset cardiomyopathy is probably underestimated because some infants succumb to heart failure before the diagnosis of Alström syndrome is made.

From: Alström Syndrome

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