Embryonic movement stimulates joint formation and development: Implications in arthrogryposis multiplex congenita
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DOI: 10.1002/bies.202000319
Abstract: Arthrogryposis multiplex congenita (AMC) is a heterogeneous syndrome where multiple joints have reduced range of motion due to contracture formation prior to birth. A common cause of AMC is reduced embryonic movement in utero. This… read more here.
Keywords: multiplex congenita; formation; embryonic movement; development ... See more keywords
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita
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DOI: 10.1002/pd.4977
Abstract: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene. read more here.
Keywords: fetal akinesia; mutations neb; multiplex congenita; neb gene ... See more keywords
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding
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DOI: 10.1016/j.nmd.2017.09.009
Abstract: RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have… read more here.
Keywords: ryr1 mutations; compound heterozygous; multiplex congenita; arthrogryposis multiplex ... See more keywords
Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome
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DOI: 10.1177/23247096221150637
Abstract: Pierpont syndrome is a rare and recently described multiple congenital anomaly syndrome, classically characterized by global developmental delay, distinctive facial dysmorphic features, and abnormal fat distribution in distal limbs. Only few cases were previously documented.… read more here.
Keywords: presentation; pierpont syndrome; syndrome; arthrogryposis multiplex ... See more keywords
Test–retest reliability for performance-based outcome measures among individuals with arthrogryposis multiplex congenita
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DOI: 10.1186/s12891-022-05070-w
Abstract: Background Most individuals with arthrogryposis multiplex congenita, a rare condition characterized by joint contractures in ≥ 2 body regions, have foot and ankle involvement leading to compromised gait and balance. The purpose of this study was to… read more here.
Keywords: arthrogryposis multiplex; test; reliability; test retest ... See more keywords
Similar Cognitive Skill Impairment in Children with Upper Limb Motor Disorders Due to Arthrogryposis Multiplex Congenita and Obstetrical Brachial Plexus Palsy
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph20031841
Abstract: Arthrogryposis multiplex congenita (AMC) and obstetrical brachial plexus palsy (OBPP) are motor disorders with similar symptoms (contractures and the disturbance of upper limb function). Both conditions present as flaccid paresis but differ from each other… read more here.
Keywords: obstetrical brachial; motor; upper limb; arthrogryposis multiplex ... See more keywords