Details of Disease

General Information of Disease (ID: DISZUNT4)

Disease Name Autosomal recessive limb-girdle muscular dystrophy type 2M
Synonyms
muscular dystrophy, limb-girdle, type 2M; muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4; limb-girdle muscular dystrophy type 2M; MDDGC4; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4; LGMD2M; FKTN autosomal recessive limb-girdle muscular dystrophy; LGMD-FKTN related; autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN
Definition
A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.
Disease Hierarchy
DISBHDU9: Familial dilated cardiomyopathy
DISXRJUG: Myopathy caused by variation in FKTN
DISTSKL0: Muscular dystrophy-dystroglycanopathy, type C
DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
DISZUNT4: Autosomal recessive limb-girdle muscular dystrophy type 2M
Disease Identifiers
MONDO ID
MONDO_0012699
MESH ID
C566912
UMLS CUI
C1969040
OMIM ID
611588
MedGen ID
370585
Orphanet ID
206554
SNOMED CT ID
726618007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FKTN OTQ9GCXL Definitive Autosomal recessive [1]
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References

1 Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756.