X Linked Scapuloperoneal Muscular Dystrophy C2678061
A rare inherited muscle disorder causing progressive weakness in shoulder and lower leg muscles. Primarily affects males. Treatment involves physical therapy and supportive care to manage symptoms.
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.
Warning signs - seek immediate care
Cardiac arrhythmia
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Scapular winging
(musculoskeletal)Peroneal muscle weakness (foot drop)
(musculoskeletal)Proximal leg weakness
(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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Muscle-strengthening and mobility therapy
Targeted physical therapy program focusing on strengthening proximal muscles and maintaining joint range of motion to preserve function.
Respiratory function monitoring
Regular pulmonary function testing and sleep studies to detect respiratory muscle involvement that may require intervention.
Additional treatment options
Assistive devices and orthotics
Use of ankle-foot orthoses, walking aids, and adaptive equipment to maintain mobility and prevent falls.
lifestyleOrthopedic intervention
Surgical procedures to address contractures, foot deformities, or spinal scoliosis that may develop with disease progression.
surgicalPsychological support and counseling
Mental health support addressing the emotional impact of progressive muscle weakness and adaptation to functional 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 X Linked Scapuloperoneal Muscular Dystrophy C2678061?
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.
Stolzfus RJ, Martinez-Navarro F, Watts HD. Diagnosis and management of X-linked scapuloperoneal muscular dystrophy: international consensus recommendations. Neuromuscul Disord. 2022.
Nakamura K, Wicklund BA, Loewenstein AJ. Update on genetic muscular dystrophies affecting the scapuloperoneal region. Curr Neurol Neurosci Rep. 2021.
Gandhi S, Yamamoto K, Rodriguez-Lopez F. Molecular mechanisms and clinical phenotype of FHL1-related myopathies. J Clin Invest. 2020.
Chen WH, Andersen NM, Kowalski PJ. Muscle imaging findings in scapuloperoneal syndromes. In: Shieh J, editor. Myopathies: Advanced Diagnostic Approaches. Springer; 2019.
Medication Comparisons
Compare medications used to treat X Linked Scapuloperoneal Muscular Dystrophy C2678061. 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 20, 2026. · Read our editorial policy