Arthrogryposis multiplex congenital with respiratory complications in an adult: A case report
Sheeba K1*, Gowdham Pannirselvam2
1Nursing Incharge – MICU, Kauvery Hospital, Marathahalli, Bengaluru
2Sr. Nurse Educator, Kauvery Hospital, Marathahalli, Bengaluru
*Correspondence
Abstract
Background
Arthrogryposis Multiplex Congenita (AMC) is a heterogeneous group of congenital conditions characterized by multiple joint contractures affecting two or more body regions. It is not a single disease entity and may result from abnormalities involving the central or peripheral nervous system, neuromuscular junction, muscles, connective tissue, or other mechanisms that reduce fetal movement. The clinical severity and associated complications vary considerably. Functional limitations, impaired mobility, feeding or swallowing difficulties, and respiratory problems may occur depending on the underlying condition.
Case Presentation
A 48-year-old female with a known history of Arthrogryposis Multiplex Congenita and interstitial lung disease presented with fever, cough with expectoration for seven days, breathing difficulty, and decreased responsiveness for one day. She also had bilateral lower-limb swelling, reduced appetite, and progressive dependence on activities of daily living. She was previously able to ambulate with support.
On initial assessment, her Glasgow Coma Scale was E4M5V4 and oxygen saturation was 55% on room air. Oxygen therapy was initiated, antimicrobial therapy was started, and she was transferred to the intensive care unit. Due to poor oral intake and difficulty swallowing, enteral feeding was initiated. Following initial stabilization, she was transferred to the ward. During the subsequent clinical course, she developed vomiting followed by choking, sudden unresponsiveness, and cardiac arrest. Cardiopulmonary resuscitation was initiated according to advanced life support principles, with return of spontaneous circulation. She subsequently required invasive mechanical ventilation and intensive care. Her condition was complicated by severe respiratory failure, mixed metabolic and respiratory acidosis, lactic acidosis, lower respiratory tract infection with sepsis, and aspiration-related lung injury in the background of interstitial lung disease and AMC. Despite supportive management, her clinical condition deteriorated.
Conclusion
This case highlights the importance of recognizing AMC as a significant underlying condition when assessing respiratory, nutritional, swallowing, and functional problems in adults. The combination of severe functional limitation, swallowing difficulty, recurrent respiratory infection, aspiration risk, and underlying interstitial lung disease can result in rapid clinical deterioration. Early multidisciplinary assessment, respiratory monitoring, aspiration-risk reduction, nutritional support, and individualized nursing care are essential in patients with AMC and associated respiratory disease.
Keywords: Arthrogryposis multiplex congenita; Interstitial lung disease; Dysphagia; Aspiration pneumonitis; Respiratory failure; Respiratory infection; Sepsis; Adult case report.
Introduction
Arthrogryposis Multiplex Congenita is a clinical term used for a diverse group of conditions characterized by congenital contractures involving multiple joints. The condition is heterogeneous, and the underlying cause can vary considerably between individuals. Reduced fetal movement is a common final pathway, but the causes may include abnormalities affecting the central nervous system, peripheral nerves, neuromuscular junction, muscles, or other developmental mechanisms.
AMC should therefore not be considered simply an orthopedic condition. The extent of functional impairment may influence mobility, independence, nutrition, swallowing, respiratory function, and the ability to perform activities of daily living. The clinical presentation depends on the specific underlying disorder and the systems involved.
Respiratory complications may be particularly important in individuals with severe functional limitations or associated neuromuscular and pulmonary disease. Previous literature has described respiratory and swallowing difficulties in some forms of AMC, although the severity and mechanisms differ among phenotypes.
Interstitial lung disease is a broad group of disorders involving the pulmonary interstitium and may lead to progressive impairment of gas exchange and reduced respiratory reserve. Acute respiratory worsening in patients with established ILD may occur because of infection, aspiration, acute exacerbation, pulmonary edema, or other causes. The coexistence of AMC and chronic respiratory disease creates an important clinical challenge. Reduced mobility, dependence on caregivers, impaired oral intake, swallowing difficulty, and recurrent respiratory infections may increase vulnerability to acute respiratory deterioration. This case describes the clinical course of an adult patient with AMC and interstitial lung disease who developed severe respiratory complications associated with infection and an aspiration-related event.
Anatomy and Physiology Relevant to the Case
Musculoskeletal system
The musculoskeletal system provides structural support, movement, posture, and protection of internal organs. Normal joint movement requires coordinated function of bones, joints, muscles, tendons, nerves, and the central nervous system.
In AMC, congenital restriction of joint movement results in fixed or limited joint positions. The distribution and severity of contractures vary widely. Depending on the underlying cause, muscle development and strength may also be affected. These changes can interfere with mobility, positioning, transfers, self-care, and independence. In the present case, the patient’s AMC was associated with significant functional limitations. She had become dependent on activities of daily living and required support for walking.
Respiratory system
Normal respiration requires coordinated function of the respiratory muscles, chest wall, airways, alveoli, pulmonary circulation, and central respiratory control. Air enters through the upper respiratory tract and passes through the tracheobronchial tree into the alveoli. At the alveolar level, oxygen diffuses into pulmonary capillary blood while carbon dioxide diffuses from blood into the alveolar space for exhalation. Adequate ventilation therefore depends not only on healthy lung tissue but also on effective respiratory muscle activity and chest-wall movement. Any condition that reduces pulmonary reserve or compromises respiratory mechanics can make a patient more vulnerable to hypoxemia during acute illness.
Swallowing and airway protection
Swallowing is a coordinated process involving the oral cavity, pharynx, larynx, esophagus, respiratory muscles, and nervous system. During a normal swallow, the airway is protected and food or fluid is directed toward the esophagus. Failure of effective airway protection can result in aspiration of gastric or oropharyngeal contents into the respiratory tract. Aspiration may produce chemical pneumonitis, aspiration pneumonia, or other forms of aspiration-related lung injury. This becomes particularly relevant when a patient has difficulty swallowing, poor oral intake, reduced consciousness, or an underlying neuromuscular or functional disorder.
Arthrogryposis Multiplex Congenita
AMC is characterized by congenital contractures involving two or more body areas. It represents a group of conditions rather than a single disorder. Current understanding emphasizes that reduced fetal movement is a common mechanism leading to abnormal joint positioning and contractures, while the underlying causes are diverse.
Clinical manifestations may involve the upper and lower limbs, spine, jaw, and other regions. Functional impairment may range from relatively mild restriction to severe dependence on caregivers. Associated abnormalities can include scoliosis, respiratory problems, pulmonary abnormalities, and feeding or swallowing difficulties in selected phenotypes.
An important challenge in AMC is that the musculoskeletal manifestations may be more obvious than the associated systemic complications. Therefore, assessment should extend beyond joint contractures and include mobility, respiratory function, nutrition, swallowing, skin integrity, communication, psychosocial needs, and activities of daily living.
The adult literature on AMC remains comparatively limited, and recent reviews have identified adults and aging as important areas where further research is required.
Pathophysiological sequence
Genetic / neurological / neuromuscular / connective tissue abnormality
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Abnormal development or function of the motor system
↓
Reduced fetal movement (fetal hypokinesia/akinesia)
↓
Reduced muscle activity and abnormal joint positioning
↓
Abnormal development of muscles, tendons, joint capsules and surrounding soft tissues
↓
Joint stiffness and contractures
↓
Multiple congenital joint contractures
↓
Reduced mobility and functional limitation
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Secondary complications such as muscle weakness, skeletal deformity, impaired mobility, feeding/swallowing difficulties and, in selected phenotypes, respiratory complications
Pathophysiology of this case
The clinical progression in this case can be understood as a combination of reduced functional reserve associated with AMC, chronic pulmonary disease, infection, swallowing impairment, and an acute aspiration-related event.
A simplified pathophysiological sequence is:
Arthrogryposis Multiplex Congenita
↓
Long-term mobility and functional limitations
↓
Dependence in activities of daily living
↓
Difficulty with oral intake/swallowing
↓
Increased aspiration vulnerability
↓
Underlying interstitial lung disease with reduced pulmonary reserve
↓
Recurrent respiratory infection
↓
Acute respiratory deterioration and severe hypoxemia
↓
Vomiting and choking episode
↓
Aspiration-related pulmonary injury
↓
Respiratory failure and metabolic abnormalities
↓
Cardiorespiratory arrest
Acute respiratory worsening in patients with ILD can result from infection, aspiration, or acute exacerbation, and these events may occur in lungs that already have limited functional reserve.
It is important, however, not to assume that every episode of acute deterioration in an ILD patient represents an acute exacerbation of ILD. Current approaches distinguish acute respiratory worsening caused by conditions such as pneumonia or aspiration from acute exacerbation characterized by specific clinical and radiological features.
Case Presentation
A 48-year-old female with a known history of Arthrogryposis Multiplex Congenita and interstitial lung disease presented with fever, cough with expectoration for seven days, breathing difficulty for one day, and decreased responsiveness for one day. She also had bilateral lower-limb swelling and reduced appetite. There had been a progressive decline in her functional status, with dependence on activities of daily living for approximately two weeks. She was able to walk with support.
On initial clinical assessment, the patient had a Glasgow Coma Scale of E4 M5 V4. Both pupils were approximately 2 mm, equal and reactive to light. Oxygen saturation was 55% on room air, indicating severe hypoxemia. Oxygen therapy was initiated through a facemask at 4 L/min. Antimicrobial therapy with piperacillin-tazobactam was started, and the patient was transferred to the intensive care unit for further management.
Initial Clinical Management
In the intensive care unit, oxygen therapy and close respiratory monitoring were continued. Because of poor oral intake and difficulty swallowing, a Ryle’s tube was inserted to provide enteral nutritional support.
Laboratory evaluation identified hyponatremia, for which sodium correction was initiated. Following clinical stabilization, the patient was transferred to the ward for continued care. During the ward stay, dental consultation was obtained for extensive oral ulcers, and the recommended management was followed.
The patient subsequently developed abdominal discomfort and bloating. A gastroenterology consultation was obtained, and ultrasonography of the abdomen and pelvis demonstrated mild wall thickening with concern for cystitis. Appropriate medical advice was followed.
Acute Clinical Deterioration
During the subsequent course of hospitalization, the patient developed an episode of vomiting followed by choking. Soon afterward, she became unresponsive and was found to have no palpable pulse. Cardiopulmonary resuscitation was immediately initiated according to advanced cardiovascular life support principles. Three cycles of resuscitation were performed over approximately 20 minutes, following which return of spontaneous circulation was achieved.
The patient was transferred back to the intensive care unit for further management. Following the cardiac arrest, laboratory investigations demonstrated mixed metabolic acidosis, respiratory acidosis, and lactic acidosis, indicating severe systemic and respiratory compromise.
The clinical picture was considered in the context of:
- Arthrogryposis Multiplex Congenita
- Interstitial lung disease
- Lower respiratory tract infection with sepsis
- Respiratory failure
- Aspiration-related lung injury
- Lactic acidosis
- Mixed metabolic and respiratory acidosis
- Post-cardiac-arrest critical illness
The patient required invasive mechanical ventilation and high levels of ventilatory and oxygen support.
Respiratory and Aspiration Considerations
The episode of vomiting followed by choking was clinically important because of the patient’s pre-existing swallowing difficulty and chronic respiratory disease. Aspiration can cause either chemical pneumonitis or infectious aspiration pneumonia, depending on the clinical circumstances and subsequent inflammatory or infectious response. The distinction is clinically important because management differs.
Patients with ILD have limited pulmonary reserve, and an additional pulmonary insult may result in significant deterioration. Infection and aspiration have both been described as potential triggers or contributors to acute respiratory worsening in patients with fibrotic interstitial lung disease. In this patient, the combination of chronic ILD, recurrent respiratory infection, swallowing difficulty, poor oral intake, and an acute vomiting/choking episode created a particularly high-risk clinical situation.
Clinical Outcome
Following return of spontaneous circulation, the patient’s condition remained critical. She required invasive mechanical ventilation and high ventilatory support. The family was counselled regarding the severity of the patient’s condition, including the recent cardiac arrest, severe respiratory failure, mixed metabolic and respiratory acidosis, lactic acidosis, lower respiratory tract infection with sepsis, aspiration-related lung injury, and the underlying chronic conditions. Considering the guarded prognosis, the family opted for comfort-focused management rather than continuation of escalating aggressive interventions. Despite continued supportive and comfort-focused care, the patient subsequently experienced another cardiac arrest and died.
Discussion
This case highlights the importance of viewing Arthrogryposis Multiplex Congenita as a multisystem clinical condition rather than solely a disorder of joint contractures. AMC encompasses a wide range of etiologies and phenotypes. The underlying mechanisms can involve different levels of the motor system, and the severity of functional impairment varies considerably.
One of the important challenges in caring for adults with AMC is functional dependence. Limited joint movement may affect positioning, mobility, transfers, feeding, personal hygiene, respiratory physiotherapy, and the ability to independently respond to acute illness.
The patient in this case had a decline in functional status before her acute presentation. She had become dependent for activities of daily living and required support for ambulation. This reduction in functional reserve occurred alongside chronic interstitial lung disease and recurrent respiratory infections.
AMC and respiratory vulnerability
Respiratory problems have been described among the complications associated with selected forms of AMC. However, it is important not to generalize findings from one AMC phenotype to all patients because AMC is highly heterogeneous. The patient’s known ILD provided an additional respiratory burden. ILD can reduce effective gas exchange and pulmonary reserve. During infection or another acute pulmonary insult, the patient’s ability to compensate may therefore be limited.
AMC, swallowing and aspiration
Swallowing dysfunction is particularly relevant in some forms of AMC. Historical literature has described dysphagia and aspiration-related respiratory complications in selected AMC populations, particularly in patients with neurogenic forms. In the present case, difficulty swallowing was clinically significant enough to require enteral feeding. Later, the patient experienced vomiting followed by choking and acute deterioration. Although a single clinical event cannot establish every step of causality, the temporal relationship and documented aspiration-related pulmonary injury make aspiration an important component of the clinical course.
Interstitial lung disease and acute deterioration
Acute respiratory deterioration in ILD can have several causes, including infection, aspiration, pulmonary edema, and acute exacerbation. Contemporary literature emphasizes the importance of identifying the specific cause rather than assuming that every acute deterioration represents an idiopathic exacerbation. The patient’s presentation included fever, productive cough, severe hypoxemia, and subsequent evidence of lower respiratory tract infection with sepsis. Her later vomiting and choking episode provided an additional potential pulmonary insult.
Learning Points from the Case
- AMC is a heterogeneous condition and should not be viewed only as a musculoskeletal disorder.
- Functional dependence in AMC can have major implications for nutrition, mobility, respiratory care, and activities of daily living.
- Swallowing difficulty should be actively assessed because aspiration can produce serious respiratory complications.
- Patients with underlying ILD have limited pulmonary reserve and may deteriorate rapidly following infection or aspiration.
- A vomiting and choking episode in a patient with swallowing difficulty should be treated as a significant clinical event requiring immediate assessment.
- Acute respiratory deterioration in ILD requires evaluation for infection, aspiration, pulmonary edema, and acute exacerbation rather than assuming a single cause.
- Multidisciplinary assessment and early escalation are essential in patients with complex AMC and respiratory disease.
Conclusion
This case demonstrates the complex clinical challenges that may arise in an adult with Arthrogryposis Multiplex Congenita and coexisting interstitial lung disease. AMC contributed an important background of functional limitation and swallowing difficulty, while chronic pulmonary disease and recurrent respiratory infection reduced the patient’s respiratory reserve.
The subsequent episode of vomiting and choking was followed by severe clinical deterioration and cardiorespiratory arrest in the setting of aspiration-related lung injury, respiratory failure, sepsis, and metabolic abnormalities.
The case emphasizes that AMC requires a broader clinical perspective extending beyond joint contractures. Assessment of respiratory function, swallowing safety, nutrition, mobility, pressure-injury risk, functional dependence, and aspiration risk should form an integral part of care. Early recognition of deterioration and coordinated multidisciplinary management may be particularly important in adults with AMC and chronic respiratory disease.
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