Disease relevance of Arthrogryposis

• Hereditary peroneal muscular atrophy in the mouse: an experimental model for congenital contractures (arthrogryposis) [1].
• In 1985 a Dutch family was described with a dominant, non-progressive spinal muscular atrophy presenting at birth with arthrogryposis (MIM 600175) [2].
• We report a 2-year-old boy with phosphofructokinase deficiency presenting in the newborn period with congenital arthrogryposis and severe myopathy, who has had significant improvement on a ketogenic diet since its institution at 4 months of age [3].
• As the anomalous condition was present at birth with no progression, the pma mouse may be an experimental model for the study of arthrogryposis multiplex congenita or club foot deformity, and may lead to the understanding of the muscle and nerve interaction during development [1].
• We describe a patient with cholestasis, aminoaciduria, ichthyosis, partial callosal agenesis, and sensorineural deafness who, although homozygous for the novel VPS33B mutation 971delA/K324fs, predicted to abolish VPS33B function, did not exhibit arthrogryposis [4].

High impact information on Arthrogryposis

• Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita [5].
• Analysis of the DNA showed an SMNT deletion in two of four infants with neurogenic arthrogryposis [6].
• In a national morphology based study of lethal arthrogryposis between 1979 and 1992, 40 fetuses and infants with lethal congenital contracture syndrome (LCCS, McKusick 253310) were found in Finland. The incidence of LCCS in Finland was 1:19,000 births [7].
• Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet [3].
• Alagille syndrome patients carry mutations in JAG1, and mutations in VPS33B have been identified in patients with arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) [8].

Chemical compound and disease context of Arthrogryposis

• Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function [9].
• We report on clinical evaluations of Brazilian patients with misoprostol-induced arthrogryposis [10].
• We have previously shown that rats are not susceptible and rabbits only weakly susceptible to coniine-induced arthrogryposis [11].
• Aerobic and anaerobic metabolism of the musculus extensor carpi radialis and the musculus flexor digitorum superficialis in calves with arthrogryposis multiplex congenita (AMC) of both forelimbs [12].
• The number of alpha-motoneurons in the spinal cord segments C6 to Th2 of five calves with Arthrogryposis Multiplex Congenita (AMC) and of five normal calves was compared [13].

Biological context of Arthrogryposis

• Absence of arthrogryposis in newborn Hampshire pigs from sows ingesting toxic levels of jimsonweed during gestation [14].

Anatomical context of Arthrogryposis

• Postmortem examination confirmed major anatomical malformations, including facial cleft, arthrogryposis of the upper and lower limbs and bilateral diaphragmatic hernia, and also revealed hypoplastic lungs, right renal agenesis and a complex cardiac malformation [15].
• In summary, the chick embryo provides a reliable and simple experimental animal model of coniine-induced arthrogryposis [16].
• Hyperthermia during sevoflurane anaesthesia in arthrogryposis multiplex congenita with central nervous system dysfunction [17].
• In four patients, two with brachial plexus palsy and two with arthrogryposis, the entire pectoralis major muscle was transplanted to act as an elbow flexor, rotating it on its neurovascular pedicles and attaching the tendon to the acromion and the muscle origin to the tuberosity of the radius [18].
• We report on an Arab family with autosomal dominant inheritance of a syndrome characterized by a variable combination of optic nerve colobomas, renal abnormalities, vesicoureteral reflux, lax joints and arthrogryposis multiplex [19].

Gene context of Arthrogryposis

• Three alpha-actinin-3-deficient patients had pure CMD and presented in the newborn period with muscle weakness, hypotonia and arthrogryposis [20].
• Consequently, we label this disorder distal arthrogryposis type 2B (DA2B) [21].
• A TNNI2 mutation in a family with distal arthrogryposis type 2B [22].
• While the observation of MELAS in a child with distal arthrogryposis could be co-incidental, it raises concern about the possible role of mitochondrial myopathy or neuropathy in causation of distal arthrogryposis [23].
• Absence of the pyramids was also observed in several known or new genetic syndromes - Meckel's syndrome, the HARD syndrome, two sisters with congenital aqueductal stenosis and polydactyly and two families with microcephaly and arthrogryposis [24].

References