SCIENTIFIC BACKGROUND

CHKB, COL6A1, COL6A2, COL6A3, CRPPA, DNM2, FHL1, FKRP, FKTN, ITGA7, LAMA2, LARGE1, LMNA, POMGNT1, POMGNT2, POMT1, POMT2, SELENON, TCAP

Category:

Scientific Background

Muscular dystrophies cause progressive muscle weakness and degeneration. The underlying defects involve genes required for normal muscle function and the clinical manifestations are partially overlapping. Immunohistochemical or immunofluorescence staining can be used for the differentiation of some subtypes, such as dysferlinopathy, dystrophinopathy or sarcoglycanopathies. Many other defective proteins involved in the disease are not readily identifiable. The most frequently occurring muscular dystrophies are Duchenne muscular dystrophy, myotonic dystrophies, and fazioscapulohumeral muscular dystrophy. Less frequently occurring muscular dystrophies are limb-girdle, Emery-Dreifuss and the congenital muscular dystrophies. Pathogenic variants in many genes lead to this group of diseases and their differentiation often poses a great challenge.

 

Congenital muscular dystrophies (CMD) are rare, clinically and genetically heterogeneous with different, sometimes severe accompanying symptoms, such as malformations of the central nervous system or the eyes. The disease course is highly variable. Their prevalence is still largely unknown, although the frequency of certain subtypes varies within different population groups. Various classification strategies have been proposed, such as the classification of types into the following main categories:

 

  • Collagenopathies: autosomal recessive and autosomal dominant (also known as collagen VI associated myopathy), including Ullrich congenital muscular dystrophy and Bethlem myopathy
  • Merosinopathies: autosomal recessive (also known as merosine-deficient congenital muscular dystrophy)
  • Dystroglycanopathies: autosomal recessive (alpha-dystroglycan-associated muscular dystrophies) including Fukuyama congenital muscular dystrophy, muscle eye brain disease, Walker-Warburg syndrome, primary alpha-dystroglycanopathy and muscular dystrophy-dystroglycanopathy types 10, 11 and 14.
  • Unclassified congenital muscular dystrophies: rigid-spine syndrome (SEPN1 and FHL1), multiminicore disease, limb-girdle muscular dystrophy (LMNA)

 

References

Falsaperla et al. 2016, Ital J of Ped 42:78 / Kang et al. 2015, Neurol 84:1369 / Dai et al. 2015, Neuromusc Dis 25:617 / Chae et al. 2015, J Med Genet 52:208 / Sparks et al. 2012, Genereviews

GENES

CHKB, COL6A1, COL6A2, COL6A3, CRPPA, DNM2, FHL1, FKRP, FKTN, ITGA7, LAMA2, LARGE1, LMNA, POMGNT1, POMGNT2, POMT1, POMT2, SELENON, TCAP
How to order

LATEST ARTICLES

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are ...

Read more

Here you can read the winning essays from the first, annual DNA essay competition on the subject of "How unfolding the DNA code can help with precisi...

Read more

Introduction Our voices are as unique as our fingerprints! Although there are people whose voices might sound alike, there are no two voices exact...

Read more

Not everyone likes winter. For people who do not enjoy the cold weather, or having to put on a thick coat to go outside, a winter can be a source of ...

Read more