Arthrogryposis Multiplex Congenita
Arthrogryposis (Arthrogryposis Multiplex Congenita - AMC)
Definition
Arthrogryposis is characterized by multiple joint contractures present at birth, affecting two or more areas of the body. The term describes a clinical finding rather than a specific diagnosis.
Epidemiology
- Incidence: 1 in 3,000-5,000 live births
- No gender predilection
- Risk factors:
- Reduced fetal movement
- Oligohydramnios
- Multiple pregnancies
- Maternal illness
- Structural uterine abnormalities
Pathophysiology
- Decreased fetal movement (akinesia)
- Causes:
- Neurogenic disorders (70%)
- Muscular disorders (20%)
- Connective tissue disorders
- Space limitations in utero
- Vascular compromise
Classification Systems
Etiological Classification
- Group 1: Primarily Musculoskeletal Involvement
- Classic Arthrogryposis (Amyoplasia)
- Distal Arthrogryposis
- Pterygium Syndromes
- Group 2: Primarily Neurological Involvement
- Central Nervous System disorders
- Peripheral Nervous System disorders
- Motor Neuron disorders
- Group 3: Other Systemic Involvement
- Connective tissue disorders
- Metabolic disorders
- Chromosomal abnormalities
Distal Arthrogryposis Classification
- Type 1: Classic DA
- Type 2A: Freeman-Sheldon syndrome
- Type 2B: Sheldon-Hall syndrome
- Type 3: Gordon syndrome
- Type 4: Scoliosis included
- Type 5: Eye and pulmonary involvement
- Type 6: Sensorineural hearing loss
- Type 7: Trismus-pseudocamptodactyly
- Type 8: Autosomal dominant pterygium
- Type 9: Congenital contractural arachnodactyly
- Type 10: Congenital plantar contractures
Clinical Manifestations
Common Features in Amyoplasia
- Symmetric Involvement
- Upper Extremity:
- Extended, internally rotated shoulders
- Fixed elbow extension
- Flexed, ulnarly deviated wrists
- Stiff fingers with thumb-in-palm
- Lower Extremity:
- Hip dislocation (80%)
- Extended or flexed knees
- Severe clubfoot deformities
- Trunk:
- Scoliosis
- Round shoulders
- Midline hemangioma
Associated Features
- Normal intelligence in most cases
- Normal facial appearance
- Dimples over affected joints
- Decreased muscle mass
- Cylindrical-shaped limbs
- Growth restriction
Diagnostic Approach
Prenatal Diagnosis
- Ultrasonography findings:
- Decreased fetal movement
- Fixed joint positions
- Abnormal posturing
- MRI: For associated CNS abnormalities
Postnatal Evaluation
- Clinical Assessment:
- Joint range of motion
- Muscle strength testing
- Neurological examination
- Dysmorphology evaluation
- Imaging Studies:
- Radiographs
- MRI brain and spine
- Muscle/nerve imaging
- Laboratory Studies:
- Genetic testing
- Muscle enzymes
- Metabolic screening
Treatment Approach
Principles of Management
- Early intervention
- Multidisciplinary approach
- Focus on function over appearance
- Parent education and support
Conservative Management
- Physical Therapy:
- Passive stretching
- Range of motion exercises
- Strengthening exercises
- Occupational Therapy:
- Activities of daily living
- Adaptive equipment
- Hand function training
- Orthotics:
- Static and dynamic splinting
- Serial casting
- Custom bracing
Surgical Management
- Upper Extremity:
- Shoulder releases
- Elbow releases
- Wrist/hand procedures
- Tendon transfers
- Lower Extremity:
- Hip reduction
- Knee releases
- Club foot correction
- Talectomy if needed
- Spine:
- Scoliosis correction
- Spinal fusion if needed
Complications and Prognosis
Potential Complications
- Musculoskeletal:
- Recurrent deformities
- Joint stiffness
- Osteoarthritis
- Progressive scoliosis
- Respiratory:
- Restrictive lung disease
- Recurrent pneumonia
- Sleep apnea
- Others:
- Feeding difficulties
- Growth delays
- Skin problems
Prognosis Factors
- Type and severity of involvement
- Age at diagnosis and treatment
- Quality of intervention
- Associated conditions
Long-term Outcomes
- Independent ambulation: 85% in amyoplasia
- Upper extremity function varies
- Normal life expectancy in isolated cases
- Good quality of life possible with support
Disclaimer
The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.
