IllnessMuscular dystrophy, congenital; differential diagnosis

NGS +

{Sanger]

Congenital muscular dystrophies are a group of genetic disorders in which weakness and dystrophic biopsy patterns are present at birth or occur in the first months after birth. Unlike progressive muscular dystrophies with later onset, muscle weakness is more stable overall, depending on the individual disorder, but complications may become more prominent over time. Clinically, congenital muscular dystrophies can be divided into subgroups with normal intellectual development or those with deficits. This essentially corresponds to the proteins involved in the pathogenesis of the disease entities. Whereas disorders with normal intellectual development are usually caused by genetic defects of extracellular matrix proteins (laminin α-2, collagen VI) or endoplasmic reticulum proteins, congenital muscular dystrophies with brain involvement are often due to defects in glycosylation of α-dystroglycan. There is considerable clinical and genetic overlap among three disease groups, congenital muscular dystrophies, congenital myopathies and progressive limb-girdle muscular dystrophies. The mode of inheritance for most congenital muscular dystrophies is autosomal recessive. The DNA diagnostic yield depends critically on clinical case workup and amounts to little more than 20%. A negative molecular genetic result does not constitute exclusion of the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK97333/

https://www.ncbi.nlm.nih.gov/books/NBK1206/

https://www.ncbi.nlm.nih.gov/books/NBK1503/

• Alias: Muscular dystrophy, congenital
• Alias: Santavuori congenital muscular dystrophy (POMGNT1)
• Alias: Walker-Warburg syndrome (POMT1)
• Allelic: Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Dystonia 27 (COL6A3)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
• Allelic: Muscular dystrophy-dystroglycanopathy [congen. without mental retard.], type B, 4 (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 2 (POMT2)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 4 (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 5 (FKRP)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 7 (CRPPA)
• Allelic: Myopathy, congenital, with fiber-type disproportion (SELENON)
• Allelic: Myosclerosis, congenital (COL6A2)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Bethlem myopathy 2 (COL12A1)
• Carey-Fineman-Ziter syndrome (MYMK)
• Kollagen-VI-Muskeldystrophie (COL12A1)
• Muscular dystrophy, congenital (LMNA)
• Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
• Muscular dystrophy, rigid spine, 1 (SELENON)
• Muscular dystrophy-dystroglycanopathy [congen. with mental retard.], type B, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy [congen. with mental retard.], type B, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy [congen. with mental retard.], type B, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy [congen. with mental retard.], type B, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy [congen. with/-out mental retard.], type B, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy [congenital with brain + eye anomalies], type A, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy [congenital with brain + eye anomalies], type A, 10 (TMEM5)
• Muscular dystrophy-dystroglycanopathy [congenital with brain + eye anomalies], type A, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy [congenital with brain + eye anomalies], type A, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy [congenital with brain + eye anomalies], type A, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy [congenital with brain + eye anomalies], type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy [congenital with brain + eye anomalies], type A, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy [congenital with brain + eye anomalies], type A, 7 (CRPPA)
• Myopathy, mitochondrial, and ataxia (MSTO1)
• Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
• Ullrich congenital muscular dystrophy 2 (COL12A1)