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Fukutin-related limb-girdle muscular dystrophy R13
Disease 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.
ORPHA:206554
Classification level: Disorder- Synonym(s):
- Autosomal recessive LGMD type 2M
- Autosomal recessive limb-girdle muscular dystrophy type 2M
- Fukutin-related LGMD R13
- LGMD type 2M
- LGMD2M
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy
- ICD-10: G71.0
- OMIM: 611588
- UMLS: C1969040
- MeSH: -
- GARD: 12538
- MedDRA: -
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- English (2015, pdf)
- Español (2015, pdf)
- Clinical genetics review
- English (2012)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.