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GMPPB-related limb-girdle muscular dystrophy R19
Disease definition
A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
ORPHA:363623
Classification level: Disorder- Synonym(s):
- Autosomal recessive limb-girdle muscular dystrophy type 2T
- GMPPB-related LGMD R19
- LGMD type 2T
- LGMD2T
- Limb-girdle muscular dystrophy type 2T
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood, Infancy, Neonatal
- ICD-10: G71.2
- OMIM: 615352
- UMLS: -
- MeSH: -
- GARD: 12544
- 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.