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Autosomal recessive myogenic arthrogryposis multiplex congenita
Disease definition
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.
ORPHA:319332
Classification level: Disorder- Synonym(s):
- Autosomal recessive myogenic AMC
- SYNE1-related AMC
- SYNE1-related arthrogryposis multiplex congenita
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal
- ICD-10: Q74.3
- OMIM: 618484
- UMLS: C4707155
- MeSH: -
- GARD: -
- 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
- Svenska (2017) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- English (2015) - Neurology
- Français (2021) - PNDS
- Anesthesia guidelines
- Español (2018) - Orphananesthesia
- Deutsch (2019) - Orphananesthesia
- Czech (2019) - Orphananesthesia
- English (2019) - Orphananesthesia
- Português (2019) - Orphananesthesia
Disease review articles
- Clinical genetics review
- English (2012) - GeneReviews


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.