Condition Lookup
Sub-Category:
Rare Genetic Disorders
Number of Conditions: 2
Duchenne Muscular Dystrophy
Specialty: Pediatrics
Category: Genetic and Rare Disorders
Sub-category: Rare Genetic Disorders
Symptoms:
progressive muscle weakness; difficulty walking; frequent falls; muscle cramps; waddling gait; enlarged calves; difficulty with motor skills (such as climbing stairs); respiratory issues; heart problems
Root Cause:
Caused by mutations in the DMD gene, leading to a deficiency of dystrophin, a protein essential for muscle function.
How it's Diagnosed: videos
Diagnosed through genetic testing (looking for mutations in the DMD gene), muscle biopsy, serum creatine kinase (CK) levels, and electromyography (EMG).
Treatment:
No cure, but treatment aims to manage symptoms and improve quality of life. Physical therapy, corticosteroids (such as prednisone), heart medications (for cardiomyopathy), respiratory support, and surgical interventions to address contractures.
Medications:
Prednisone (a corticosteroid used to slow muscle degeneration), Deflazacort (another corticosteroid), and various heart medications such as ACE inhibitors or beta-blockers for heart complications. These are classified as corticosteroids and cardiology medications.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 3,500 to 5,000 live male births worldwide. It is an X-linked disorder, so it predominantly affects males.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of Duchenne muscular dystrophy, mutations in the DMD gene.
Prognosis:
The expected outcome or course of the condition over time.
Life expectancy has increased with improved care, but most individuals will experience loss of ambulation by adolescence and face significant respiratory and cardiac issues by their 20s or 30s.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Progressive muscle weakness, scoliosis, joint contractures, respiratory failure, cardiac complications (such as cardiomyopathy), and reduced life expectancy.
Williams Syndrome
Specialty: Pediatrics
Category: Genetic and Rare Disorders
Sub-category: Rare Genetic Disorders
Symptoms:
distinctive facial features (such as a broad forehead, full cheeks, and a wide mouth); cardiovascular problems (especially supravalvular aortic stenosis); developmental delays; learning disabilities; hypercalcemia (elevated calcium levels); social personality (extremely outgoing and friendly); anxiety disorders; poor coordination and motor skills
Root Cause:
Caused by a deletion of genetic material on chromosome 7, including the elastin gene, which leads to the cardiovascular issues and other symptoms.
How it's Diagnosed: videos
Diagnosed via genetic testing (FISH analysis) to detect the chromosome 7 deletion.
Treatment:
Management focuses on addressing the cardiovascular issues (e.g., surgery or monitoring for aortic stenosis), developmental and speech therapy, and interventions for anxiety or other behavioral issues.
Medications:
No specific medications for the condition itself, but medications such as beta-blockers or ACE inhibitors may be prescribed for cardiovascular issues. Anti-anxiety medications (e.g., selective serotonin reuptake inhibitors) may also be used.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 7,500 to 20,000 live births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Williams syndrome is typically caused by a spontaneous genetic mutation (deletion on chromosome 7) and is not usually inherited.
Prognosis:
The expected outcome or course of the condition over time.
Individuals often live into adulthood with appropriate medical management, particularly for cardiovascular health. They tend to have a distinctive, socially engaging personality, but cognitive and developmental delays are common.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cardiovascular issues (such as aortic stenosis, hypertension), learning disabilities, anxiety, hypercalcemia, and motor difficulties. Cardiovascular complications are the leading cause of early mortality in individuals with Williams syndrome.