Child- and adult-onset structural genetic muscle disorders panel

Child- and adult-onset structural genetic muscle disorders panel

[56 genes]

TOURNAROUND TIME: 6 WEEKS

ADSSL1 ANO5 BAG3 BVES CAPN3 CAV3 CRYAB DES DMD DNAJB6
DNM2 DYSF EMD FHL1 FKRP FKTN FLNC GNE HNRNPDL ISPD
KLHL9 LAMP2 LDB3 LIMS2 LMNA MATR3 MYH2 MYH7 MYOT NEB
PABPN1 PLEC POMGNT1 POMT1 POMT2 SELENON (SEPN1) SGCA SGCB SGCD SGCG
SYNE1 SYNE2 TCAP TIA1 TMEM43 TNPO3 TOR1AIP1 TRAPPC11 TRIM32 TRIM54
TRIM63 TRPV4 TTN VCP VMA21 XK
ADSSL1 ANO5 BAG3 BVES
CAPN3 CAV3 CRYAB DES
DMD DNAJB6 DNM2 DYSF
EMD FHL1 FKRP FKTN
FLNC GNE HNRNPDL ISPD
KLHL9 LAMP2 LDB3 LIMS2
LMNA MATR3 MYH2 MYH7
MYOT NEB PABPN1 PLEC
POMGNT1 POMT1 POMT2 SELENON (SEPN1)
SGCA SGCB SGCD SGCG
SYNE1 SYNE2 TCAP TIA1
TMEM43 TNPO3 TOR1AIP1 TRAPPC11
TRIM32 TRIM54 TRIM63 TRPV4
TTN VCP VMA21 XK

The group of child- and adult-onset structural genetic muscle disorders encompasses the rest of muscular dystrophies: a group of inherited diseases that affect skeletal muscle, characterized by a progressive degeneration of muscle fibers determining loss of strength. This heterogeneous group of diseases has been a subject of clinical and molecular studies for decades, leading to increasingly complex classifications based on genotype-phenotype correlation attempts.

So far, one of the most useful classifications for the clinical practice is still the prevailing weakness pattern, which allows identifying phenotypes to guide genetic studies. We have relied on this classification to guide clinical decision making aimed at selecting the most suitable panel for molecular diagnosis:

  • Dystrophinopathies (DMD)
  • Limb-girdle muscular dystrophies (both at the pelvic and shoulder level)
  • Emery-Dreifuss muscular dystrophy (characterized by a scapulohumeral-peroneal distribution and early contractures, associated with heart disease)
  • Distal myopathies (with a pattern of weakness predominantly involving distal muscles)
  • Oculopharyngeal muscular dystrophy*
  • Facioscapulohumeral muscular dystrophy**

With the exception of oculopharyngeal muscular dystrophy*, whose main pathogenic mechanism is a triplet repeat expansion in the PABPN1 gene (analyzed in our laboratory on specific request), and facioscapulohumeral muscular dystrophy**, whose main pathogenic mechanism is the contraction of a repetitive region in the DUX4 gene (detected by a technique not performed in our laboratory), there are specific panels for the study of the remaining pathologies. We have developed an additional panel for the study of myofibrillar myopathies, selected for their characteristic findings on muscle 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.

 

NEUROLOGY PORTFOLIO


STUDY REQUEST
Select the panel you wish to request


INFORMED CONSENT
Required document in order to perform the study


VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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