Condition Lookup
Sub-Category:
Sensory Disorders
Number of Conditions: 3
Usher syndrome (hearing and vision loss)
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Sensory Disorders
Symptoms:
hearing loss; progressive vision loss (night blindness, tunnel vision); balance issues in some cases
Root Cause:
Mutations in genes affecting the development and function of the inner ear and retina, leading to sensorineural hearing loss and retinitis pigmentosa.
How it's Diagnosed: videos
Clinical examination, hearing tests, visual field tests, electroretinography, genetic testing for causative mutations.
Treatment:
No cure; management includes hearing aids, cochlear implants, vision aids, orientation and mobility training, and counseling.
Medications:
No specific medications treat the syndrome directly, but supplements like vitamin A palmitate may slow vision loss in some patients.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 4 to 17 in 100,000 people worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, particularly autosomal recessive inheritance patterns.
Prognosis:
The expected outcome or course of the condition over time.
Progressive hearing and vision loss over time; early intervention can improve quality of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Total blindness, profound hearing loss, and impaired mobility due to balance issues.
Retinitis pigmentosa
Specialty: Genetics
Category: Other Genetic Syndromes
Sub-category: Sensory Disorders
Symptoms:
night blindness; progressive loss of peripheral vision; eventual loss of central vision in advanced stages
Root Cause:
Mutations in over 100 genes responsible for photoreceptor and retinal pigment epithelial function, leading to degeneration of rods and cones in the retina.
How it's Diagnosed: videos
Clinical examination, fundus photography, electroretinography, visual field testing, and genetic testing.
Treatment:
No cure; management includes low-vision aids, orientation and mobility training, and possibly gene therapy in the future.
Medications:
High-dose vitamin A palmitate may slow progression in some patients. Emerging treatments include gene therapy and retinal implants (in trials).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 4,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, particularly autosomal dominant, recessive, or X-linked inheritance patterns.
Prognosis:
The expected outcome or course of the condition over time.
Gradual progression to blindness, but some maintain central vision into later adulthood. Experimental therapies hold promise.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Blindness, psychological effects, and reduced mobility and independence.
Brachioradial Pruritus
Specialty: Mental Health and Psychology
Category: Neurological-Related
Sub-category: Sensory Disorders
Symptoms:
intense itching on the outer forearm; worsening with sun exposure or heat; burning or tingling sensations in the affected area
Root Cause:
Compression or irritation of cervical nerve roots (e.g., C5-C6), often linked to degenerative spinal changes or sun exposure.
How it's Diagnosed: videos
Clinical examination, MRI or CT scans of the cervical spine to identify nerve compression, and ruling out dermatological causes.
Treatment:
Avoidance of sun exposure, physical therapy, topical capsaicin or cooling agents, and nerve modulation techniques.
Medications:
Gabapentin or pregabalin (anticonvulsants used for nerve pain); topical anesthetics like lidocaine .
Prevalence:
How common the health condition is within a specific population.
Rare condition; precise prevalence unknown but more common in middle-aged adults.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
History of spinal arthritis, herniated discs, or prolonged sun exposure.
Prognosis:
The expected outcome or course of the condition over time.
Can be chronic but manageable with lifestyle changes and appropriate treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Persistent itching may lead to skin excoriations or secondary infections.