Symptoms of connective tissue disorders can vary depending on the affected areas. The most serious symptoms are related to inflammation around the lungs. These symptoms involving the lungs may include:

• Difficulty breathing
• Shortness of breath
• Breathlessness
• Fatigue
• A cough with bloody phlegm
• Chest discomfort or pain
• Respiratory failure

Other symptoms not involving the lungs may include:

• Swelling in the fingers
• White fingertips
• Numb fingertips
• Joint pain or weakness
• Muscle weakness

Causes and Risk Factors

The cause of connective tissue disorders is not always known. Some are caused by a genetic component, while others can be caused by injury. Others seem to appear without any known cause. Certain conditions may show an increased rate of occurrence in certain groups but they can affect both men and women of all ages.

Diagnosis begins with the physician taking a medical history and performing a neurological examination. Because connective tissue disorders can have symptoms similar to other conditions, diagnostic tests will help rule out other causes and confirm a diagnosis.

These tests may include a magnetic resonance imaging (MRI) scan of the brain and spinal cord and a lumbar puncture, also known as a spinal tap. Chest x-rays may be ordered to see if signs of inflammation are present in the lungs. Other tests may include an electromyogram to record the signals between muscles and nerves, and nerve or muscle biopsy of the affected area to confirm the diagnosis.

Treatments will vary depending on the type of connective tissue disorder diagnosis the patient receives. Corticosteroids may be used to reduce inflammation for a short period or indefinitely.

Some conditions can affect a patient’s daily life, so physical and occupational therapy may be used to manage symptoms and help patients adjust to living and working situations. Physical aids such as braces or a cane may also be needed. For some patients, pain management may be needed.

Choosing the right treatment requires careful consideration of the risks and benefits, along with close collaboration with a neurologist with experience in treating the disease, such as those at the Cedars-Sinai Department of Neurology.