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Arthrogryposis and fetal hypomobility syndrome
Goknur Haliloglu1, Haluk Topaloglu
1Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Insights
Arthrogryposis, a congenital joint contracture condition, has diverse causes including genetic and environmental factors. Early diagnosis and a multidisciplinary approach are key for managing this condition.
Area of Science:
- Pediatrics
- Genetics
- Developmental Biology
Background:
- Arthrogryposis is a congenital condition characterized by multiple joint contractures present at birth.
- Its etiology is multifactorial, encompassing genetic disorders affecting the nervous system or connective tissue, leading to decreased fetal movement.
- Causes also include vascular and environmental factors, with the condition originating in utero.
Purpose of the Study:
- To provide a comprehensive overview of arthrogryposis, including its diverse etiologies and clinical presentations.
- To highlight the importance of a thorough diagnostic workup, including family history and assessment for systemic involvement.
- To emphasize the necessity of a multidisciplinary care approach for optimal patient management.
Main Methods:
- Review of existing literature on arthrogryposis.
- Analysis of clinical presentations, including different types such as sporadic, syndromic, neurogenic, myopathic, and metabolic.
- Emphasis on diagnostic tools like family trees and identification of associated systemic conditions (e.g., renal, pulmonary).
Main Results:
- Motor neuron disorders are the most common cause of arthrogryposis.
- Fetal akinesia/hypokinesia represents a severe spectrum of the condition.
- Amyoplasia is characterized by diminished muscle bulk in extremities, and distal arthrogryposis is often dominantly inherited.
Conclusions:
- A genetic cause is identified in over 50% of arthrogryposis cases.
- A multidisciplinary team including nutritionists and physiotherapists is essential for management.
- Despite challenges, individuals with arthrogryposis can lead near-normal lives with appropriate support and genetic counseling.
Abstract:
Arthrogryposis is a heterogeneous condition, evident from birth, which can be defined as multiple contractures of the joints. The etiology is multifold: genetic disorders of the central or peripheral nervous system, or of the connective tissue leading to decreased fetal movements, and vascular and environmental causes. The problem begins in utero. There may be overlapping conditions between sporadic, syndromic, neurogenic, myopathic and metabolic types. The workup should include a family tree. Systemic involvement, for example of the renal and pulmonary systems, may be encountered in associated syndromes. Motor neuron disorders leading to the condition are the most commonly seen type. Fetal or neonatal akinesia/hypokinesia is at the severe end of the spectrum, in which there is literally intrauterine limitation of movement. Children with amyplasia are born with little or diminished muscle bulk of the extremities. Distal arthrogryposis is almost always a dominantly inherited condition. A multidisciplinary care approach is required in order to provide optimum healthcare. The management team should include a nutritionist and a physiotherapist. Genetic counseling is possible in most instances. A truly genetic cause can be identified in more than 50% of cases. Survivors, though handicapped, can lead near normal lives.
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