Background:
Neuromuscular disorders are a group of heterogeneous conditions affecting the nervous system that controls muscle movements. This neuronal damage in turn causes degradation of the affected muscular tissue causing weakness and loss of muscle tone. Congenital muscular dystrophies have onsets ranging from birth to early infancy. Affected children may present with progressive muscle weakness, delayed motor development, joint contractures and spinal defects. This NGS tests for congenital muscular dystrophies including the following subtypes: defects of structural protein, defects of glycosylation, defects of proteins in endoplasmic reticulum, defects of nuclear envelope proteins, and dystroglycanopathies. Many of the congenital muscular dystrophies are autosomal recessive, however collagen VI deficient and LMNA-associated muscular dystrophies can be autosomal dominant.
Reasons for Referral:
- Abnormal serum creatine kinase levels
- Muscle degradation
- Abnormal electromyography (EMG)
- Abnormal nerve conduction studies (NCS)
- Positive family history (targeted testing is available if familial mutation is known).
- Carrier testing
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated. Exon-centric deletion/duplication analysis (1340) is also available if indicated.
Congenital Muscular Dystrophy (20 genes):
CHKB, COL6A1, COL6A2, COL6A3, DAG1, DPM1, DPM3, FKRP, FKTN, ISPD, ITGA7, LAMA2, LARGE, LMNA, POMGNT1, POMT1, POMT2, RYR1, SEPN1, TCAP
Methodology:
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Test Performed (Days):
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References:
- GeneReviews: Congenital myopathies and congenital muscular dystrophies.
Curr Opin Neurol. 2001 Oct;14(5):575-82. http://www.ncbi.nlm.nih.gov/pubmed/11562568
- GeneReviews: Congenital Muscular Dystrophy Overview http://www.ncbi.nlm.nih.gov/books/NBK1291/
Additional Info: