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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.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive myogenic arthrogryposis multiplex congenita.
2 publications have been identified in PubMed for autosomal recessive myogenic arthrogryposis multiplex congenita. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Yunoki T (2026). [PMID: 40467513](https://pubmed.ncbi.nlm.nih.gov/40467513/). *Internal medicine (Tokyo, Japan)*. [Case Report / Case Series]
Illés A (2024). [PMID: 39062310](https://pubmed.ncbi.nlm.nih.gov/39062310/). *Children (Basel, Switzerland)*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center