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Plectin-related limb-girdle muscular dystrophy R17
Disease definition
A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
ORPHA:254361
Classification level: Disorder- Synonym(s):
- Autosomal recessive limb-girdle muscular dystrophy type 2Q
- LGMD type 2Q
- LGMD2Q
- Limb-girdle muscular dystrophy type 2Q
- Plectin-related LGMD R17
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: G71.0
- OMIM: 613723
- UMLS: -
- MeSH: -
- GARD: 12542
- MedDRA: -
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- Czech (2015)
- English (2015)
- Clinical genetics review
- English (2012)
Additional information
Further information on this disease
Patient-centred resources for this disease
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Specialised Social Services
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