Distal myopathies panel [37 genes]
Structural diseases during infancy and adult age comprise the rest of muscular dystrophies: a group of hereditary diseases that affect the skeletal muscle, with the characteristic progressive degeneration of muscle fibers which causes loss of strength. This heterogeneous group of diseases continues to be characterized from the clinical and molecular point of view since decades ago, giving rise to increasingly more complex classifications based on genotype-phenotype correlation attempts.
At the moment, one of the most useful classifications in clinical therapy continues to be the predominant weakness pattern, that allows for the identification of phenotypes to guide the genetic studies. We have taken them as the basis to help make clinical decisions on choosing the best clinical panel for molecular diagnosis:
- Dystrophinopathies (DMD)
- Limb-girdle muscular dystrophy (both in the pelvic and shoulder regions)
- Emery-Dreifuss muscular dystrophy (characterized by a facio-scapulo-humeral distribution and early contractures, associated with cardiomyopathy)
- The distal myopathy group (with a pattern of predominant involvement at the distal level)
- Oculopharyngeal muscular dystrophy*
With the exception of oculopharyngeal muscular dystrophy* (whose main pathogenic mechanism is the expansion of triplets in the PABPN1 gene, a technique performed in our laboratory which must be specifically requested), the rest of the pathologies have a specific panel for their analysis. We have included an additional panel, chosen for particular characteristics on muscle biopsy, for the study of myofibrillar and protein aggregate myopathies.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
- Laing-type distal myopathy
- Miyoshi-type distal myopathy
- Nonaka-type distal myopathy
- Udd-type distal myopathy
- Welander-type distal myopathy
- 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.
- Emery AE. The muscular dystrophies. Lancet 2002; 359:687-95.
- Puckelwartz M, McNally EM. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101:155-66.
- Romero NB, Clarke NF. Congenital myopathies. Handb Clin Neurol 2013; 113:1321-26.
- Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr Opin Neurol 2008; 21:569-75.
- Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21:161-71.
- 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.
- Wicklund MP. The muscular dystrophies. Continuum (Minneap Minn) 2013; 19:1535-70.