IllnessLimb girdle muscular dystrophy, autosomal dominant; differential diagnosis

NGS +

Limb-girdle muscular dystrophy (LGMD) refers to a group of diseases that cause weakness and wasting of proximal muscles in the arms and legs, particularly the shoulders, upper arms, pelvic region and thighs. The severity, age of onset and symptoms vary among the many subtypes and may even vary within the same family. Initial symptoms can occur at any age and generally worsen over time, but in some cases they remain mild. In the early stages of LGMD, sufferers may have an unusual gait and may also have difficulty running. Because of weak thigh muscles, they may have to use their arms to push themselves up from a squatting position. As the disease progresses, LGMD patients may eventually become dependent on a wheelchair. Muscle atrophy can lead to changes in posture or in the shoulders, back and arms. Weak shoulder muscles in particular tend to twist/“wing“ the shoulder blades (“winging“). Affected individuals may also have lordosis or scoliosis. Some develop contractures in the hips, knees, ankles and elbows or hypertrophy of the calf muscles. Cardiomyopathies and respiratory problems also occur in some forms, eventually requiring mechanical ventilation. Intelligence is generally not affected. Because the DNA diagnostic yield barely reaches 80%, a negative test result does not exclude the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK1476/

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

• Alias: Limb-girdle syndrome
• Alias: Myopathic limb-girdle syndrome
• Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, dilated, 1HH (BAG3)
• Allelic: Cardiomyopathy, dilated, 1I (DES)
• Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
• Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
• Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
• Allelic: Cataract 16, multiple types (CRYAB)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Creatine phosphokinase, elevated serum (CAV3)
• Allelic: Dystonia 27 (COL6A3)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Immunodeficiency 10 (STIM1)
• Allelic: Immunodeficiency 9 (ORAI1)
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Myopathy, distal, 4 (FLNC)
• Allelic: Myopathy, distal, Tateyama type (CAV3)
• Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Allelic: Myosclerosis, congenital (COL6A2)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Salih myopathy (TTN)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
• Allelic: Stormorken syndrome (STIM1)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
• Central core disease (RYR1)
• Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Emery-Dreifuss muscular dystrophy 5, AD (SYNE2)
• Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
• Limb-Girdle Muscular Dystrophy [panelapp] (LMNA)
• Limb-girdle muscular dystrophy, LGMD1R (LMNA)
• Muscular dystrophy, limb-girdle, AD 2 (TNPO3)
• Muscular dystrophy, limb-girdle, AD 3 (HNRNPDL)
• Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Muscular dystrophy, limb-girdle, type 1A (MYOT)
• Muscular dystrophy, limb-girdle, type 1C (CAV3)
• Muscular dystrophy, limb-girdle, type 1E (DNAJB6)
• Muscular dystrophy, limb-girdle, type 1G (HNRNPDL)
• Muscular dystrophy, limb-girdle, type 2A (CAPN3)
• Muscular dystrophy, limb-girdle, type 2R (DES)
• Muscular dystrophy-dystroglycanopathy, cong. with impaired intell. development, type B, 15 (DPM3)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 15 (DPM3)
• Myopathy, myofibrillar, 1 (DES)
• Myopathy, myofibrillar, 2 (CRYAB)
• Myopathy, myofibrillar, 5 (FLNC)
• Myopathy, myofibrillar, 6 (BAG3)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, tubular aggregate, 1 (STIM1)
• Myopathy, tubular aggregate, 2 (ORAI1)
• Myopathy, vacuolar, with CASQ1 aggregates (CASQ1)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Rippling muscle disease (CAV3)
• Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)