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Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Disease definition
A form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.
ORPHA:280333
Classification level: Disorder- Synonym(s):
- Alpha-dystroglycan-related LGMD R16
- Autosomal recessive limb-girdle muscular dystrophy type 2P
- LGMD type 2P
- LGMD2P
- Limb-girdle muscular dystrophy type 2P
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: G71.0
- OMIM: 613818
- UMLS: -
- MeSH: -
- GARD: 12541
- MedDRA: -
A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)
Detailed information
General public
- Article for general public
- English (2012) - Socialstyrelsen
- Svenska (2018) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Français (2022) - PNDS
- Anesthesia guidelines
- Czech (2015) - Orphananesthesia
- English (2015) - Orphananesthesia
- Español (2015) - Orphananesthesia


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.