A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting

Abstract

Pompe disease is a rare, metabolic, autosomal recessive disorder. Early diagnosis is critical for progressive Pompe disease as delays can significantly alter the clinical course of the disease. Diagnostic modalities, including dried blood spot testing and genetic testing, are available and are effective for diagnosing patients with late-onset Pompe disease (LOPD). However, clinicians face numerous clinical challenges related to the diagnosis of the disease. Two expert group committee meetings, involving 11 experts from the United Arab Emirates, Kuwait, the Kingdom of Saudi Arabia, and Oman, were convened in October 2019 and November 2020 respectively to develop a uniform diagnostic algorithm for the diagnosis of pediatric and adult LOPD in the Arabian Peninsula region. During the first meeting, the specialty-specific clinical presentation of LOPD was defined. During the second meeting, a diagnostic algorithm was developed after a thorough validation of clinical presentation or symptoms, which was performed with the aid of existing literature and expert judgement. A consensus was reached on the diagnostic algorithm for field specialists, such as neurologists, rheumatologists, general practitioners/internal medicine specialists, orthopedic specialists, and pulmonologists. This specialty-specific diagnostic referral algorithm for pediatric and adult LOPD will guide clinicians in the differential diagnosis of LOPD.

Metabolic Myopathies in the Era of Next-Generation Sequencing

“…Most of them are autosomal recessive, but maternally inherited myopathies (of mitochondrial origin) and even rarer autosomal dominant and X-linked metabolic myopathies do exist. Recessive myopathies are more prevalent in endogamous areas (Maghreb, the Middle East, and the Indian subcontinent) or in isolates (French Guiana) [8,9]. However, the presence of GSD II seems to be less prevalent in the Middle East than originally expected [8].…”

“…Recessive myopathies are more prevalent in endogamous areas (Maghreb, the Middle East, and the Indian subcontinent) or in isolates (French Guiana) [8,9]. However, the presence of GSD II seems to be less prevalent in the Middle East than originally expected [8]. This might be due to an ascertainment bias and/or a poor recognition of the disease.…”