Other and unspecified primary disorders of muscles

G6_MUSCOTHUNS

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — G71.8, G71.9 Cause of death: ICD-10 — G71.8, G71.9 2 out of 7 registries used, show all original rules.	264
4. Check minimum number of events None	264
5. Include endpoints None	264
6. Filter based on genotype QC (FinnGen only)	264

Control definitions (FinnGen only)

Control exclude: G6_MYONEU

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2

NAME	G6_MUSCOTHUNS
CONTROL_EXCLUDE	G6_MYONEU
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	G71[8-9]
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	G71[8-9]
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Other and unspecified primary disorders of muscles based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	1716	804	901
Only index persons	1507	719	788
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.03
Only index persons	0.03	0.03	0.03
Median age at first event (years)
Whole population	51.52	52.43	50.70
Only index persons	51.61	52.14	51.12

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	264	137	127
Unadjusted period prevalence (%)	0.05	0.05	0.06
Median age at first event (years)	51.61	51.78	51.44

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS (R11)

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log₁₀(p-value) ≥ 6.

Matched cohort

Matched cases
242: Matched controls
2421

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

G71.9

ICD-10 Finland

Primary disorder of muscle, unspecified

+∞

210.3

170

G71.8

ICD-10 Finland

Other primary disorders of muscles

+∞

103.8

G72.9

ICD-10 Finland

Myopathy, unspecified

593.0

84.6

G71.08

ICD-10 Finland

Other muscular dystrophy

+∞

64.5

G71.18

ICD-10 Finland

Other myotonic disease

+∞

34.2

R1250

NOMESCO Finland

Evaluation of functional capability

30.6

30.9

NJ3CG

NOMESCO Finland

Extensive MRI examination of extremities with median high magnet

118.0

29.4

NXL00

NOMESCO Finland

Biopsy of muscle

73.3

28.7

Z31.5

ICD-10 Finland

Genetic counselling

10.8

27.4

G72.8

ICD-10 Finland

Other specified myopathies

+∞

24.4

L28

ICPC

Limited function/disability (L)

5.1

19.8

179

R29.8

ICD-10 Finland

Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems

6.4

19.3

104

G71.00

ICD-10 Finland

Muscular dystrophy benign [Becker]

+∞

19.0

G71.3

ICD-10 Finland

Mitochondrial myopathy, not elsewhere classified

+∞

19.0

N03AE01

ATC

clonazepam; systemic

7.4

17.4

M60.8

ICD-10 Finland

Other myositis

+∞

16.9

Z03.3

ICD-10 Finland

Observation for suspected nervous system disorder

7.4

16.7

NJ3BG

NOMESCO Finland

MRI examination of extremities with high intensity magnet

43.4

16.6

SPAT1229

SPAT

Assessment of need for aid

6.2

14.8

G71.0

ICD-10 Finland

Muscular dystrophy

+∞

14.7

G71.11

ICD-10 Finland

Dystrophia myotonica [Steinert]

+∞

14.7

J96.1

ICD-10 Finland

Chronic respiratory failure

17.2

14.2

N99

ICPC

Neurological disease other

32.2

14.1

NGA20

NOMESCO Finland

Exploration of soft tissue knee or lower leg, open

79.8

13.7

G71.12

ICD-10 Finland

Myotonia congenita

+∞

13.7

M60.9

ICD-10 Finland

Myositis, unspecified

53.0

13.0

N18

ICPC

Paralysis/weakness

21.5

12.7

R5110

NOMESCO Finland

Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it

4.1

12.6

156

Z46.8

ICD-10 Finland

Fitting and adjustment of other specified devices

11.4

12.0

C10AX09

ATC

ezetimibe; oral

4.7

12.0

103

Z3226

NOMESCO Finland

Physiotherapist

3.2

12.0

288

M62.9

ICD-10 Finland

Disorder of muscle, unspecified

68.4

11.7

G71.06

ICD-10 Finland

Muscular dystrophy severe [Duchenne]

+∞

11.5

R4120

NOMESCO Finland

Occupational therapy

5.4

11.4

L99

ICPC

Musculoskeletal disease other

16.5

11.0

R13

ICD-10 Finland

Dysphagia

5.3

10.8

Z03.5

ICD-10 Finland

Observation for other suspected cardiovascular diseases

4.3

10.6

106

M33.2

ICD-10 Finland

Polymyositis

114.8

10.5

N28

ICPC

Limited function/disability (N)

17.0

10.5

G71.28

ICD-10 Finland

Other congenital myopathy

+∞

10.5

N03AX12

ATC

gabapentin; oral

3.5

10.1

168

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

3.2

9.9

219

R4110

NOMESCO Finland

Physiotherapy

2.7

9.9

416

N29

ICPC

Neurological sympt/complt other

14.2

9.8

XF404

NOMESCO Finland

Ambulatory ECG

4.2

9.8

103

N03AX16

ATC

pregabalin; oral

2.8

9.7

325

G71.25

ICD-10 Finland

Congenital muscular dystrophy NOS

+∞

9.4

SPAT1223

SPAT

Implementation of physical therapy rehabilitation plan

2.6

9.3

389

I42.9

ICD-10 Finland

Cardiomyopathy, unspecified

14.4

9.3

NA3BG

NOMESCO Finland

Lumbar spine MRI examination with high intensity magnet

4.0

8.8

N07AA02

ATC

pyridostigmine; systemic

51.9

8.7

N03AF01

ATC

carbamazepine; oral, rectal

6.1

8.7

L19

ICPC

Muscle symptom/complaint NOS

9.5

8.7

NJ3DG

NOMESCO Finland

Very extensive MRI examination of extremities with high intensity magnet

93.2

8.5

33030

ICD-8 Finland

Hereditary neuromuscular disorders, Progressive muscular dystrophy

+∞

8.4

M03BX01

ATC

baclofen; systemic

15.2

8.3

FM1EE

NOMESCO Finland

Extensive structural and functional ultrasound examination of heart

2.7

8.3

285

Z50.1

ICD-10 Finland

Other physical therapy

4.9

8.2

RF410

NOMESCO Finland

34.6

8.1

ZY020

NOMESCO Finland

Telephone, letter or other consultation without direct patient contact

4.2

8.1

A28

ICPC

Limited function/disability NOS

3.2

8.1

156

SPAT1230

SPAT

Aid fitting and borrowing and monitoring of use

2.8

7.8

213

TAW99

NOMESCO Finland

Other minor neurosurgical procedure

46.5

7.8

Z00.4

ICD-10 Finland

General psychiatric examination, not elsewhere classified

3.3

7.6

128

XA402

NOMESCO Finland

ENMG

8.1

7.5

QDA99

NOMESCO Finland

Other local destruction of skin of lower limb

82.5

7.5

N02AE01

ATC

buprenorphine; parenteral, sublingual, transdermal

3.3

7.5

130

33098

ICD-8 Finland

Hereditary neuromuscular disorders, Alii definiti

+∞

7.3

Z99.1

ICD-10 Finland

Dependence on respirator

+∞

7.3

M41.4

ICD-10 Finland

Neuromuscular scoliosis

+∞

7.3

3591A

ICD-9 Finland

Muscular dystrophies and other myopathies, Hereditary progressive muscular dystrophy

+∞

7.3

R06.0

ICD-10 Finland

Dyspnoea

2.4

7.3

335

NA7DG

NOMESCO Finland

Spine and spinal cord very extensive MRI examination with high intensity magnet

31.0

7.2

G47.3

ICD-10 Finland

Sleep apnoea

2.5

7.2

301

H02AB06

ATC

prednisolone; systemic

2.1

7.1

121

784

R52.2

ICD-10 Finland

Other chronic pain

5.1

7.0

RF420

NOMESCO Finland

14.3

7.0

JDB10

NOMESCO Finland

Percutaneous gastrostomy

14.3

7.0

SPAT1231

SPAT

Assessment of adjustments needed in living environment

9.7

6.9

N06AX21

ATC

duloxetine; oral

3.3

6.8

109

RF120

NOMESCO Finland

17.3

6.8

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

3.8

6.8

M47.2

ICD-10 Finland

Other spondylosis with radiculopathy

4.0

6.6

ZXE10

NOMESCO Finland

More than one and less than three hours

2.1

6.5

569

ZX120

NOMESCO Finland

Intravenous

3.1

6.3

125

SPAT1215

SPAT

Assessment of need for medical rehabilitation

5.3

6.3

TJD20

NOMESCO Finland

Change of gastrostomy tube

18.6

6.3

3599X

ICD-9 Finland

Muscular dystrophies and other myopathies, Myopathy, unspecified

+∞

6.3

SPAT1216

SPAT

Assessment of functional ability

2.7

6.0

169

Mortality – FinRegistry

↥

Association

Association between endpoint G6_MUSCOTHUNS and mortality.

Females

Parameter	HR [95% CI]	p-value
G6_MUSCOTHUNS	2.962 [2.19, 4.0]	< 0.001
Birth year	0.992 [0.98, 1.0]	0.081

During the follow-up period (1.1.1998 — 31.12.2019), 136 out of 719 females with G6_MUSCOTHUNS died.

Males

Parameter	HR [95% CI]	p-value
G6_MUSCOTHUNS	2.651 [2.11, 3.34]	< 0.001
Birth year	0.987 [0.98, 1.0]	0.024

During the follow-up period (1.1.1998 — 31.12.2019), 181 out of 773 males with G6_MUSCOTHUNS died.

Mortality risk

Mortality risk for people of age

years, who have G6_MUSCOTHUNS.

N-year risk	Females	Males
1	0.252%	0.384%
5	1.66%	2.69%
10	3.948%	6.826%
15	7.418%	13.381%
20	12.42%	22.845%

Relationships between endpoints

↥

Index endpoint: G6_MUSCOTHUNS – Other and unspecified primary disorders of muscles

GWS hits: 9

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Other and unspecified primary disorders of muscles

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

Matched cohort

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints