Myofibrillar myopathies panel

Myofibrillar myopathies panel

[13 genes]

TOURNAROUND TIME: 6 WEEKS

ACTA1 BAG3 CRYAB DES
DNAJB6 FHL1 FLNC LDB3
MYOT PLEC TRIM54 TRIM63
TTN

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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