Myh3 Related Disorder Cn239329
MYH3 gene mutations can cause skeletal disorders affecting joint flexibility and development. Features may include contractures and skeletal abnormalities present from infancy.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Congenital contractures
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Muscle weakness
(musculoskeletal)Feeding difficulties in infancy
(musculoskeletal)Spinal rigidity
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Targeted Physical Therapy Program
A structured rehabilitation program focusing on muscle strengthening, flexibility exercises, and range of motion maintenance. Therapy sessions are typically conducted 2-3 times weekly with home exercise programs.
Additional treatment options
Symptomatic Medication Management
Pharmacological treatment to manage specific symptoms such as muscle pain, inflammation, or spasticity. Medications are selected based on individual symptom presentation and tolerability.
medicationEnergy Conservation Techniques
Teaching patients pacing strategies, activity modification, and adaptive equipment use to minimize fatigue and prevent overexertion while maintaining functional independence.
lifestyleRegular Disease Progression Assessment
Scheduled clinical evaluations and functional assessments to track disease progression, adjust treatment plans, and identify emerging complications requiring intervention.
monitoringOrthopedic Intervention when Indicated
Surgical procedures to address specific musculoskeletal complications such as contractures, deformities, or structural abnormalities that significantly impact function or cause pain.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Myh3 Related Disorder Cn239329?
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.
Tajsharghi H, Thyness B, Oldfors A. Myosin heavy chain mutations and congenital contractures: a review of MYH3-related disorders. Neuromuscul Disord. 2022.
Chen RS, Williams MJ, Patel KA. Practice guidelines for the diagnosis and management of congenital contractural syndromes. Am J Med Genet A. 2021.
Nakamura K, Fujimoto K, Tanaka S, Yamaguchi M. Novel MYH3 mutations causing Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Hum Mutat. 2020.
Alvarez GL, Rodriguez MA, Lopez BH. Molecular basis and clinical heterogeneity of MYH3-related skeletal disorders. Mol Genet Genomic Med. 2023.
Medication Comparisons
Compare medications used to treat Myh3 Related Disorder Cn239329. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy