Demographics

Date of birth CR  PR 

Date of birth of the individual, as given on birth certificate or as reported by the individual or their parent. Although registries must collect the full date of birth (see the item Full date of birth), only the year and month will be requested by the TREAT-NMD Global Registry.

Item type: date
Usage in other datasets: SMADMD
Sex CR  PR 

Current biological sex of the individual.

Item type: single selection
Usage in other datasets: SMADMD
Value ID Description
Male

Male

Female

Female

Intersex

Intersex

Unspecified

There is no sex specified on the pertinent document (e.g. birth certificate, passport or identity card)

Country of residence CR  PR 

ISO 3166-1 alpha-2 two-letter code (e.g. GB for the United Kingdom) of the most recent known primary country of residence of the individual.

Item type: restricted text
Usage in other datasets: SMADMD
Is family member affected CR  PR  datestamped 

Specifies whether any genetically related family member of the individual has received a relevant diagnosis as defined below. As long as the value is No, registries should ask the data provider at each update to verify if this has changed.

This item refers to any family member who has been diagnosed with an LGMD according to the consensus definition published in 2018. "Confirmed diagnosis" refers to a confirmation through a genetic test or muscle biopsy, while "Tentative diagnosis" means a diagnosis of an LGMD based on symptoms and signs.

Item type: single selection
Value ID Description
Confirmed diagnosis

At least one family member with a confirmed diagnosis is known

Tentative diagnosis

At least one family member with a tentative dianosis is known, but nobody with a confirmed diagnosis is known

No

No affected family member is known

Consanguinity CR  PR 

Specifies whether the individual’s biological parents are genetically related as second cousins or closer.

Item type: yes/no