Congenital structural genetic muscle disorders panel

Congenital structural genetic muscle disorders panel

[58 genes]

TOURNAROUND TIME: 6 WEEKS

ACTA1 B3GALNT2 B4GAT1 BIN1 CCDC78 CFL2 CNTN1 COL12A1 COL6A1 COL6A2
COL6A3 CHKB DAG1 DNM2 DOLK DPM1 DPM2 DPM3 FKRP FKTN
GMPPB HACD1 HRAS ISPD ITGA7 KBTBD13 KLHL40 KLHL41 LAMA2 LARGE1 (LARGE)
LMNA LMOD3 MEGF10 MTM1 MYF6 MYH2 MYH7 MYPN NEB ORAI1
PMM2 POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 RYR1 SELENON (SEPN1) SIL1
SPEG STAC3 STIM1 TNNT1 TPM2 TPM3 TRIP4 TTN
ACTA1 B3GALNT2 B4GAT1 BIN1
CCDC78 CFL2 CNTN1 COL12A1
COL6A1 COL6A2 COL6A3 CHKB
DAG1 DNM2 DOLK DPM1
DPM2 DPM3 FKRP FKTN
GMPPB HACD1 HRAS ISPD
ITGA7 KBTBD13 KLHL40 KLHL41
LAMA2 LARGE1 (LARGE) LMNA LMOD3
MEGF10 MTM1 MYF6 MYH2
MYH7 MYPN NEB ORAI1
PMM2 POMGNT1 POMGNT2 POMK
POMT1 POMT2 RXYLT1 RYR1
SELENON (SEPN1) SIL1 SPEG STAC3
STIM1 TNNT1 TPM2 TPM3
TRIP4 TTN
RELATED PHENOTYPES
Centronuclear myopathy
Central core / minicore / multiminicore myopathy
Congenital fiber-type disproportion
Nemaline myopathy
Collagen type VI-related disorders / Bethlem myopathy / Ullrich congenital muscular dystrophy
Merosin-deficient / LAMA2-related congenital muscular dystrophy
Dystroglycanopathies (Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama-type congenital muscular dystrophy, other forms of congenital muscular dystrophy with / without CNS involvement)
Rigid spine syndrome with respiratory failure
  • The group of congenital structural genetic muscle disorders includes all genes related to congenital myopathy and congenital muscular dystrophy.

    Congenital myopathies comprise a group of disorders characterized by non-dystrophic morphological abnormalities on muscular biopsy. An approximate prevalence of 3.5-5/10 000 live births has been estimated (Sharma et al., 2009). Most of these diseases manifest at birth or shortly thereafter with hypotonia, delay in motor development, and static or non-progressive weakness. Although these symptoms may be present since birth, diagnosis is often not reached until well into childhood or even in adulthood, since many of these signs may go unnoticed.
    On the other hand, congenital muscular dystrophies, despite showing symptoms from birth, usually have a more severe and progressive development and are characterized by the presence of muscular dystrophy on biopsy.

    REFERENCES
    1. Darras BT, Menache-Stroninki CC, Hinton V, Kunkel LM. Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician’s Approach, 2nd ed, Darras BT, Jones HR Jr, Ryan MM, De Vivo DC (Eds), Academic Press, San Diego 2015.
    2. Emery AE. The muscular dystrophies. Lancet 2002; 359:687.
    3. Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101:155.
    4. Romero NB, Clarke NF. Congenital myopathies. Handb Clin Neurol 2013; 113:1321.
    5. Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr Opin Neurol 2008; 21:569.
    6. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21:161.
    7. Sharma MC, Jain D, Sarkar C, Goebel HH. Congenital myopathies–a comprehensive update of recent advancements. Acta Neurol Scand. 2009 May;119(5):281-92.
    8. Wicklund MP. The muscular dystrophies. Continuum (Minneap Minn) 2013; 19:1535.

 

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