[PS12-2D-2] Arthrogryposis Multiplex Congenital
Arthrogryposis is a descriptive term used to define multiple contractures of the joints in more than one area of the body which are evident from birth. By definition, contractures are non-progressive, resolve with physical therapy and orthopedic interventions, and without splinting or physical therapy tend to return to position present at birth. A basic classification can be done at the bedside depending on involvement of limbs, presence of other system abnormalities, central nervous system involvement and intellectual disability. Amyoplasia represents little or diminished muscle bulk of the extremities. Distal arthrogryposis is characterized primarily with contractures involving hand and feet.
Fetal hypokinesia/akinesia and arthrogryposis have a huge differential diagnostic list including abnormalities of the central nervous system, nerve, neuromuscular junction, muscle, connective tissue, lack of space, maternal illness, environmental agents or vascular compromise. The work-up should include a detailed history and pedigree analysis combined with physical, dysmorphological and neurological examination. Documentation of body parts involved, degree of flexion or extension of various joints, and clinical photography at different ages can be helpful.
Numerous causative genes have been identified for each of these etiological groups with the utility of next-generation sequencing techniques. About 50% of the patients are still unsolved. Despite advances in our diagnostic pathway, recognition of clues for specific phenotypes/diseases is extremely important. Natural history, recurrence risk, evolution and management depend on the correct diagnosis. Genetic counselling and prenatal diagnosis should be provided accordingly.
A multi-disciplinary team approach is required for standard care of the patients.
Fetal hypokinesia/akinesia and arthrogryposis have a huge differential diagnostic list including abnormalities of the central nervous system, nerve, neuromuscular junction, muscle, connective tissue, lack of space, maternal illness, environmental agents or vascular compromise. The work-up should include a detailed history and pedigree analysis combined with physical, dysmorphological and neurological examination. Documentation of body parts involved, degree of flexion or extension of various joints, and clinical photography at different ages can be helpful.
Numerous causative genes have been identified for each of these etiological groups with the utility of next-generation sequencing techniques. About 50% of the patients are still unsolved. Despite advances in our diagnostic pathway, recognition of clues for specific phenotypes/diseases is extremely important. Natural history, recurrence risk, evolution and management depend on the correct diagnosis. Genetic counselling and prenatal diagnosis should be provided accordingly.
A multi-disciplinary team approach is required for standard care of the patients.