Orphanet: Fukutin related limb girdle muscular dystrophy R13
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

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

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.