IllnessLimb girdle muscular dystrophy, X-linked; differential diagnosis

NGS +

Limb-girdle muscular dystrophy refers to a large group of disorders that cause weakness and muscle wasting in the arms and legs. Most commonly affected are the proximal muscles, particularly the muscles of the shoulders, upper arms, pelvic region and thighs. Certain forms classified as limb-girdle muscular dystrophy are often grouped with other related disorders, including Emery-Dreifuss muscular dystrophy, which primarily affects the skeletal and cardiac muscles. Initial features here include contractures, particularly of the elbows, ankles and neck, already in early childhood. Most sufferers also experience muscle weakness and atrophy that slowly worsens over time, initially in the muscles of the upper arms and lower legs and later in the shoulders and hips. Almost all patients develop heart problems in adulthood, sometimes leading to heart failure with increased risk of sudden death. The diagnosis is made in a subject with a clearly relevant clinical picture and a hemizygous pathogenic variant in the EMD or FHL1 genes. Alterations in several other genes result in similar conditions but with more variable features. In more than half of all cases of Emery-Dreifuss muscular dystrophy, the genetic cause of the disease remains unknown. Therefore, a negative DNA test result may not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1436/

• Alias formerly: Lsysosomal glycogen storage disease without acid maltase deficiency (LAMP2)
• Alias: Glycogen storage disease IIb (LAMP2)
• Alias: Pseudoglycogenosis II (LAMP2)
• Alias: Vacuolar cardiomyopathy + myopathy, XL (LAMP2)
• Allelic: Cardiomyopathy, dilated, 3B (DMD)
• Allelic: Myopathy, XL, with postural muscle atrophy (FHL1)
• Allelic: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
• Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
• Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
• Antopol disease (LAMP2)
• Becker muscular dystrophy (DMD)
• Danon disease (LAMP2)
• Duchenne muscular dystrophy (DMD)
• Emery-Dreifuss muscular dystrophy 1, XL (EMD)
• Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
• Muscle glycogenosis (PHKA1)
• Myopathy, XL, with excessive autophagy (VMA21)
• Myotubular myopathy, XL (MTM1)
• Scapuloperoneal myopathy, XLD (FHL1)