Population Qualitative Data

Population age groups

Paediatric Population (< 18 years)
Preterm newborn infants (0 – 27 days)
Term newborn infants (0 – 27 days)
Infants and toddlers (28 days – 23 months)
Children (2 to < 12 years)
Adolescents (12 to < 18 years)
Adults (18 to < 46 years)
Adults (46 to < 65 years)
Elderly (≥ 65 years)
Adults (65 to < 75 years)
Adults (75 to < 85 years)
Adults (85 years and over)

Estimated percentage of the population covered by the data source in the catchment area

Exact prevalence and incidence of the centronuclear myopathies are unknown. An estimated incidence of 17 per million births for XLMTM (the main subtype of CNM) corresponds to an estimated prevalence of 4,679, but current estimates do not fully capture the true picture. There are 450 participants in the Registry, of whom 153 reported a diagnosis of XLMTM, corresponding to 3% of the conservative estimates described above.
The age range of current living registry participants is 0-86 years.

Description of the population covered by the data source in the catchment area whose data are not collected (e.g., people who are registered only for private care)

Any affected individuals worldwide who have either (a) never heard of the registry or (b) decided not to participate
Family linkage

Family linkage available in the data source permanently or can be created on an ad hoc basis

Ad hoc
Population

Population size

450

Active population size

354