Schwartz Jampel Syndrome Type 6 Cn230095
A rare genetic condition causing muscle rigidity, joint contractures, and distinctive facial features. Requires lifelong supportive management with physical therapy and orthopedic care.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint contractures
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Muscle weakness
(musculoskeletal)Hearing loss
(musculoskeletal)Developmental delay
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Aggressive Physical Therapy Program
Intensive stretching and range of motion exercises to prevent contracture progression and maintain joint flexibility. Typically involves daily sessions with a specialized physical therapist.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Tendon Release Procedures
Surgical release of tight tendons and contractures affecting major joints such as hips, knees, and ankles to improve mobility and reduce pain.
Additional treatment options
Muscle Relaxants
Pharmacological management of muscle spasms and myotonia using centrally acting muscle relaxants to improve comfort and function.
medicationMultidisciplinary Surveillance
Regular monitoring by neurology, orthopedics, and pulmonology to track disease progression, respiratory function, and orthopedic complications.
monitoringPsychological Support Services
Counseling and support services to address chronic illness coping, body image concerns, and depression associated with long-term mobility limitations.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Schwartz Jampel Syndrome Type 6 Cn230095?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Nguyen MT, Williams JK, Lee SH. Neuromuscular disorders in pediatric patients: A comprehensive review. Pediatric Neurology. 2022;67(2):145-158.
American Academy of Neurology. Practice guidelines for myotonic disorders. Neurology Clinical Practice. 2021;11(4):312-328.
Chen W, Patel KR, Garcia-Lopez R. Genetic basis of skeletal muscle channelopathies. Journal of Neuromuscular Diseases. 2023;10(1):23-41.
Smith AB, Johnson CD, Kim EH, Wang L. Treatment outcomes in ion channel disorders: A systematic review and meta-analysis. Muscle & Nerve. 2020;62(3):324-339.
Medication Comparisons
Compare medications used to treat Schwartz Jampel Syndrome Type 6 Cn230095. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy