ORPHA:139525

Distal hereditary motor neuropathy type 2

Synonyms: Distal spinal muscular atrophy type 2 · dHMN2 · dSMA2

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adolescent, Adult
Status: active

A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Distal hereditary motor neuropathy type 2	Distal spinal muscular atrophy type 2 · dHMN2 · dSMA2
fr	Neuropathie motrice distale héréditaire type 2	Atrophie musculaire spinale distale type 2 · dHMN2 · dSMA2
de	Neuropathie, distale hereditäre motorische, Typ 2	Spinale Muskelatrophie, distale, Typ 2 · dHMN2 · dSMA2
es	Neuropatía motora distal hereditaria tipo 2	Atrofia muscular espinal distal tipo 2 · dHMN2 · dSMA2
it	Neuropatia motoria ereditaria distale, tipo 2	Atrofia muscolare spinale distale, tipo 2 · dHMN2 · dSMA2
nl	Distale erfelijke motorische neuropathie type 2	Distale spinale musculaire atrofie type 2 · Distale spinale spieratrofie type 2 · dHMN2 · dSMA2
pt	Neuropatia, motora, distal, hereditária, tipo 2
pl	Dystalna dziedziczna neuropatia ruchowa typu 2	D · dHMN2 · dSMA2
cs	Distální hereditární motorická neuropatie, typ 2	Distální spinální svalová atrofie, typ 2 · dHMN2 · dSMA2
uk	Дистальна спадкова моторна нейропатія, тип 2	dHMN2 · Дистальна спінальна мязова атрофія 2 типу · dSMA2
zh	远端型遗传性运动神经病2型	远端脊髓性肌萎缩症2型
tr	Distal kalıtsal motor nöropati tip 2	dHMN2 · dSMA2 · Distal spinal kas atrofisi tip 2

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	158590	BTNT		validated
OMIM	608634	BTNT		validated
OMIM	613376	BTNT		validated
OMIM	615575	BTNT		validated
ICD-10	G12.2	NTBT	attributed	validated
ICD-11	8B61.4	NTBT	index	validated
MONDO	0015352	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:140465Autosomal dominant distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases

No children.

Genes

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FBXO38	Disease-causing germline mutation(s) in	Assessed	HGNC:28844	ENSG00000145868	608533	5q32	F-box protein 38	24207122[PMID]
HSPB1	Disease-causing germline mutation(s) in	Assessed	HGNC:5246	ENSG00000106211	602195	7q11.23	heat shock protein family B (small) member 1	15122254[PMID]
HSPB3	Disease-causing germline mutation(s) in	Assessed	HGNC:5248	ENSG00000169271	604624	5q11.2	heat shock protein family B (small) member 3	20142617[PMID]
HSPB8	Disease-causing germline mutation(s) in	Assessed	HGNC:30171	ENSG00000152137	608014	12q24.23	heat shock protein family B (small) member 8	15122253[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_3789668[PMID]_7125978[PMID]_3789668[PMID]_1517763[PMID]
Cases/families		4 families	Worldwide	Family(ies)	Validated	3789668[PMID]_7125978[PMID]_3789668[PMID]_1517763[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/139525
This record as JSON: /data/d/139525.json