The patient had multiple congenital joint contractures, more evident in the distal joints. A physical examination done showed a disproportion between body and limbs, hypotrophia and hypoplasia of shoulder and pelvic girdle and body obesity. Moreover, the patient's right hand was anchylosed but with a good mobility and he walked with an unstable, slow and broad-based gait and a pronounced lordosis. His knees were semiflexed, and his feet had equinovarus deformity.
The patient had multiple congenital joint contractures, which were more evident in the distal joints. On this clinical basis, he was diagnosed to have Multiple Congenital Arthrogryposis (MCA). The EMG, performed when the patient was two years old, showed a chronic muscle sufferance, the absence of spontaneous and voluntary activity of the left anterior tibial muscle and a neurogenous injury of the ipsilateral quadriceps femoral muscle. When he was two years old, his muscular biopsy revealed the substitution of the normal muscular fibres with adipose and connective tissue. When he was 15 years old, the AP radiographs of the vertebral column taken when the patient was in a standing position showed osteoporosis of humeri proximal epiphysis and of the hips, a filiform appearance of long bones, according to the MCA diagnosis (Fig.1; Fig.2). A physical examination done showed a disproportion between body and limbs, hypotrophia and hypoplasia of the shoulder and the pelvic girdle and body obesity. Moreover, the right hand was anchylosed, but with a good mobility and he walked with an unstable, slow and broad-based gait and pronounced lordosis. His knees were semiflexed and his feet had equinovarus deformity (Fig.3; Fig.4). In the past years, he had undergone 21 operations and he had used a lot of ambulation aids to improve ambulation and upper limb use. The patient had good linguistic and cognitive capabilities.
MCA is a non-progressive disease characterized by multiple joint contractures found throughout the body at birth. It is not a genetic disease, even though some genetic abnormalities (e.g. several trisomies such as the 13, the 18 and the 21) have an increased incidence of arthrogryposis. Some of the syndromes and conditions that are associated with MCA are congenital myasthenia gravis, congenital myotonic dystrophy, etc. Males are primarily affected when compared to females and in the US, the frequency is about 1 in 3000 live births. Despite this not being definitely proved, fetal akinesia (i.e. decreased fetal movements) is the major cause of arthrogryposis. Motion is an essential factor for the normal development of joints and their contiguous structures; lack of foetal movement causes an extra connective tissue to develop around the joint. This results in fixation of the joint, limiting movements and further aggravating the joint contracture. Foetal akinesia can be caused by foetal abnormalities, mainly originated by neurogenic disorders, and less often by muscular (malformations and malfunctions) and connective tissue alterations (synostosis, aberrant fixation of joint). Foetal akinesia can also be caused by maternal disorders (e.g. infection, drugs, trauma, other maternal illnesses). The disease mainly involves limbs, specially distal joints, less frequently the other body parts. Moreover, there are some conditions in which serious CNS dysfunctions are associated with multiple joint contractures. Although joint contractures and associated clinical manifestations vary from case to case, patients affected by MCA have several characteristics in common. Distal joints are more frequently damaged than proximal ones, and the extremities involved present a fusiform and cylindrical shape. The subcutaneous tissue is thin and cutaneous folds are absent. This is also caused by muscular hypoplasia which is often associated with the disease. Shoulders are generally adducted and internally rotated, elbows are fixed in extension and wrists and fingers are flexed. Hips are luxated and usually flexed, knees are fixed in extension and feet have equinovarus deformity. Sometimes limbs are shortened and palmate, and there is patellar bone absence and radial heat dislocations. Facial deformities includes asymmetry, flat nasal bridge, micrognathia, cleft palate, trismus, small and malformed eyes, corneal opacities, strabismus, ptosis, etc. Other deformities include scoliosis, genital deformities, hernia (inguinal, umbilical). It is possible to find respiratory, urinary and cardiac abnormalities. Cognitive capabilities are usually good, and intelligence is not compromised, except in the cases of CNS damage. Diagnosis is based on anamnesis and on the patient’s physical examination. Use of EMG and muscular biopsy is essential for differentiating between neurogenic and myopathic causes and for evaluating, besides variations in muscular fiber size, their replacement with fatty and connective tissue. Skeletal radiography is necessary to evaluate various bony abnormalities: long bone thinning, skeletal dysplasias, scoliosis, ankylosis, absence of patella, osteoporosis caused by non use, etc. In order to complete the patient's evaluation,there exist other useful imaging techniques such as ultrasonography, which can help to estimate possible viscera anomalies, CT and MRI both of which aim to study the CNS and muscle mass.
Multiple Congenital Arthrogryposis.
Based on the provided X-ray images of the lower and upper limbs, the following observations are noted:
Overall, the radiological findings are consistent with multiple joint contractures, poor muscle development, and associated deformities.
Combining the patient’s medical history and imaging characteristics, the following diagnoses or differential diagnoses may be considered:
Given the patient’s lifelong history of multiple joint contractures, along with current imaging, clinical symptoms, and medical history, the most likely diagnosis is Arthrogryposis Multiplex Congenita (AMC).
If further etiologic classification is needed, additional studies may include:
For AMC, the primary goals of treatment and rehabilitation are to improve joint mobility, maintain or enhance muscle strength, and optimize daily functional abilities. A comprehensive treatment approach may include:
During rehabilitation, a gradual and individualized approach should be followed, often guided by the FITT-VP principles:
Special considerations during exercise include:
This report provides a reference-based analysis and does not substitute for in-person consultation or a professional medical opinion. Final decisions regarding diagnosis and treatment should be made by a specialist after a full clinical evaluation.
Multiple Congenital Arthrogryposis.
