TREAT-NMD Core Datasets

Items in this group

Diagnosis date

Date on which the individual received the diagnosis.

This item refers to a diagnosis of DMD or BMD.

Item type:	date
Related items in previous version:	6.01, 6.02

Diagnosis method

Method(s) used to establish the initial diagnosis.

This item refers to the initial diagnosis of DMD or BMD.

Item type:	multiple selection
Related items in previous version:	6.03, 6.04

Value ID	Description
Genetic	Genetic/molecular test
Physical examination	Physical examination
Muscle biopsy	Muscle biopsy
Biomarkers	Biomarkers

Genetic confirmation CR PR

Specifies whether the diagnosis has been genetically confirmed. If the genetic test results are pending, the value must be No.

This item refers to a diagnosis of DMD or BMD. If the value is Yes, the results must be captured in one or more instances of the record Genetic report.

Item type:	yes/no
Consistency rules:	Must be `Yes` in case an instance of the record `Genetic report` is provided.
Related items in previous version:	1.05
Usage in other datasets:	SMA LGMD

Genetic diagnosis CR PR

Item type:	single selection
Related items in previous version:	1.05

Value ID	Description
DMD	Duchenne muscular dystrophy
BMD	Becker muscular dystrophy

Screening CR

Specifies whether the diagnosis was made as a result of screening.

This item refers to a diagnosis of DMD or BMD.

Item type:	single selection
Related items in previous version:	6.11
Usage in other datasets:	SMA

Value ID	Description
Family screening	The diagnosis was made as a result of family screening
Newborn screening	The diagnosis was made as a result of a newborn screening programme
Prenatal screening	The diagnosis was made as a result of prenatal screening
No screening	The diagnosis was not made as a result of screening

Record

Genetic report CR PR

All information collected in this record should be extracted from the genetic report and confirmed with a geneticist if necessary.

Genetic report date CR PR

Item type:	date
Related items in previous version:	6.05, 6.06
Usage in other datasets:	SMA LGMD

DMD variant CNV CR

Exon copy number variations (CNV) in the DMD gene specified using the syntax described in the following examples:

a deletion from exon 45 to exon 49 is written as del ex45-49
a duplication from exon 2 to exon 7 is written as dup ex2-7
a triplication of exon 51 is written as tri ex51
non-contiguous CNVs are written as dup ex2-7 and dup ex45-49

Please see the guidelines for curators on mutation entries in DMD registries for more information.

Item type:

restricted text

DMD variant HGVS CR

Description of the variant according to HGVS nomenclature.

The variant described here must be located in the DMD gene.

Item type:	restricted text
Related items in previous version:	6.07
Usage in other datasets:	SMA LGMD

DMD testing method CR

Testing method used to obtain the genetic result.

Registries may add an additional free-text field in their data collections forms to capture possible methods other than the ones provided in this item; values in the free-text field should be checked by a curator and mapped to the provided values wherever possible. New methods may be added to the dataset by TREAT-NMD whenever appropriate.

This item refers to the testing method used to obtain the result provided in DMD variant HGVS.

Item type:	single selection
Related items in previous version:	6.08
Usage in other datasets:	SMA SMA SMA

Value ID	Description
RFLP	RFLP (Restriction Fragment Length Polymorphism)
HRM	HRM (High Resolution Melting)
MLPA	MLPA (Multiplex Ligation-dependent Probe Amplification)
qrtPCR	qrtPCR (Quantitative Real-Time PCR)
ddPCR	ddPCR (Droplet Digital PCR)
Exon sequencing	Exon sequencing
RNA analysis	RNA analysis
Southern blotting	Southern blotting
FISH	FISH (Fluorescence in situ hybridization)

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Diagnosis