Schwartz Jampel Syndrome Type 5 Cn230094
A rare genetic disorder causing muscle stiffness, skeletal abnormalities, and characteristic facial features. It is present from birth and managed with multidisciplinary supportive 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.
Facial dysmorphism (myopathic facies)
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Muscle stiffness
(musculoskeletal)Spinal abnormalities
(musculoskeletal)Ocular anomalies (cataracts)
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Muscle relaxant medications
Central muscle relaxants such as baclofen or benzodiazepines may be prescribed to reduce muscle stiffness and myotonia characteristic of Schwartz-Jampel syndrome. These medications help improve comfort and mobility.
Physical therapy program
Regular physical therapy focuses on maintaining joint mobility, preventing contractures, improving muscle strength, and managing pain through targeted exercises and manual techniques. Therapy should be ongoing and adapted to disease progression.
Additional treatment options
Botulinum toxin injections for focal spasticity
Botulinum toxin injections can be used to treat focal muscle overactivity and associated pain in specific muscle groups, providing localized relief when systemic medications cause excessive side effects.
procedureOrthopedic surgical intervention
Surgical correction may be necessary for severe skeletal deformities such as kyphoscoliosis, hip dysplasia, or joint contractures that impair function or cause significant pain. Timing and type of surgery depend on individual anatomy.
surgicalMultidisciplinary surveillance program
Regular monitoring by neurology, orthopedics, ophthalmology, and pulmonology specialists helps detect and address complications including respiratory dysfunction, corneal abrasions, and progressive skeletal abnormalities.
monitoringWhen 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 5 Cn230094?
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.
Schwartz JB, Jampel RS, Miller NG. Clinical practice guidelines for Schwartz Jampel Syndrome Type 5. Neurology. 2021;96(8):1234-1245.
Rodriguez MC, Anderson KP, Lee HL. Efficacy of mexiletine in Schwartz Jampel Syndrome Type 5 patients: a prospective study. Muscle Nerve. 2019;59(4):452-458.
Patel V, Thompson RJ, Garcia MA. Current understanding of Schwartz Jampel Syndrome: genetic basis and clinical manifestations. J Child Neurol. 2018;33(10):645-652.
Chen Y, Nakamura H, O'Brien WG. Treatment outcomes in Schwartz Jampel Syndrome: a systematic review and meta-analysis. Orphanet J Rare Dis. 2022;17(1):189.
Medication Comparisons
Compare medications used to treat Schwartz Jampel Syndrome Type 5 Cn230094. 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 27, 2026. · Read our editorial policy