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Oculopharyngodistal myopathy — Clinical Guidelines

Overview

Oculopharyngodistal myopathy (OPDM) is a rare subtype of myofibrillar myopathy characterized by progressive muscle weakness, particularly affecting ocular, pharyngeal, and distal muscle groups. It often involves systemic manifestations including cardiac involvement and neuropathy 1 3 4 5 6 7.

Diagnosis

Clinical Features: Progressive muscle weakness, especially in ocular, pharyngeal, and distal muscles; rigid spine syndrome; sensory-motor axonal neuropathy 2.

Recommended Tests:

- Electromyography (EMG): Shows muscle membrane instability and small, polyphasic motor unit potentials 7. - Cardiac Evaluation: Echocardiography, ECG, and echocardiography to assess for cardiac abnormalities 4 5. - Muscle Biopsy: Demonstrates myopathic changes, rimmed vacuoles, and abnormal desmin accumulation 6. - Genetic Testing: Screen for mutations in DES (desmin) and BAG3 genes 2 3 6.

Management

Symptomatic Treatment:

- Physical Therapy: To maintain muscle strength and mobility 7. - Respiratory Support: Consider in advanced cases with respiratory muscle involvement 5.

Cardiac Monitoring and Management:

- Regular cardiac evaluations and management of arrhythmias or conduction defects 4. - Pacemaker implantation for atrioventricular block 4 6.

Special Populations

Cardiac Involvement: Significant in both pediatric and adult populations, necessitating early cardiac monitoring 5 4.

Variable Onset: Age at onset ranges widely from adolescence to adulthood, affecting management strategies 7.

Key Recommendations

Comprehensive Cardiac Assessment: Regular in-depth cardiac investigations are essential to prevent and manage cardiac conduction system disease in DES gene mutation carriers (Evidence: Strong 4).

Genetic Testing for Diagnosis: Include DES and BAG3 gene screening in the diagnostic workup for suspected myofibrillar myopathies, especially with rigid spine syndrome and axonal neuropathy (Evidence: Moderate 2 3).

Early Respiratory Support: Consider early intervention for respiratory muscle involvement to prevent complications (Evidence: Expert opinion 5).

Regular Monitoring of Muscle Function: Use EMG and muscle biopsies to monitor disease progression and guide management (Evidence: Moderate 7).

References

1 Winter L, Unger A, Berwanger C, Spörrer M, Türk M, Chevessier F et al.. Imbalances in protein homeostasis caused by mutant desmin. Neuropathology and applied neurobiology 2019. link 2 Noury JB, Maisonobe T, Richard P, Delague V, Malfatti E, Stojkovic T. Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. Muscle & nerve 2018. link 3 Weihl CC, Iyadurai S, Baloh RH, Pittman SK, Schmidt RE, Lopate G et al.. Autophagic vacuolar pathology in desminopathies. Neuromuscular disorders : NMD 2015. link 4 Wahbi K, Béhin A, Charron P, Dunand M, Richard P, Meune C et al.. High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. Neuromuscular disorders : NMD 2012. link 5 El-Menyar AA, Al-Suwaidi J, Gehani AA, Bener A. Clinical and histologic studies of a Qatari family with myofibrillar myopathy. Saudi medical journal 2004. link 6 Melberg A, Oldfors A, Blomström-Lundqvist C, Stålberg E, Carlsson B, Larrson E et al.. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Annals of neurology 1999. link46:5<684::aid-ana2>3.0.co;2-#) 7 Amato AA, Kagan-Hallet K, Jackson CE, Lampkin S, Wolfe GI, Ferrante M et al.. The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. Neurology 1998. link

Oculopharyngodistal myopathy