Related Experiment Video

Updated: May 13, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Coats syndrome in facioscapulohumeral dystrophy type 1: frequency and D4Z4 contraction size

Jeffrey M Statland1, Sabrina Sacconi, Constantine Farmakidis

  • 1Departments of Neurology, University of Rochester Medical Center, Rochester, NY, USA. Jeffrey_Statland@URMC.Rochester.edu

Neurology
|March 1, 2013
PubMed

Insights

Coats syndrome is a rare complication in facioscapulohumeral muscular dystrophy type 1 (FSHD1), often linked to larger D4Z4 contractions. Increased eye surveillance is recommended for FSHD1 patients with D4Z4 fragments up to 15 kb.

Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a genetic disorder affecting muscles.
  • Coats syndrome is a rare eye condition characterized by abnormal blood vessel development in the retina.
  • The association between FSHD1 and Coats syndrome, particularly concerning D4Z4 contraction size, requires further investigation.

Purpose of the Study:

  • To determine the frequency of Coats syndrome in patients with FSHD1.
  • To explore the relationship between D4Z4 contraction size and the occurrence of Coats syndrome in FSHD1 patients.

Main Methods:

  • Searched North American FSHD registry and University of Rochester database.
  • Reviewed existing literature and surveyed 14 international FSHD referral centers.
  • Identified and analyzed data from genetically confirmed FSHD1 patients diagnosed with Coats syndrome, including D4Z4 contraction size.

Main Results:

  • Identified 14 patients with FSHD and confirmed Coats syndrome.
  • The median D4Z4 fragment size in affected patients was 13 kb.
  • Coats syndrome was diagnosed at a median age of 10 years.

Conclusions:

  • Coats syndrome is a rare extramuscular manifestation of FSHD1.
  • Large D4Z4 contractions are associated with Coats syndrome in FSHD1.
  • Retinal complication surveillance is advised for FSHD1 patients with D4Z4 fragments ≤15 kb.
Abstract

More Related Videos

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction10:41

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction

Published on: May 12, 2016

Related Concept Videos

Fascicle Arrangement in Skeletal Muscles01:25

Fascicle Arrangement in Skeletal Muscles

Fascicles are bundles of muscle fibers in a skeletal muscle. Muscle fascicle arrangement is directly associated with the power and range of motion of various muscles. The configuration of these fascicles can vary, leading to different functional outcomes.
The four primary types of muscle based on fascicle arrangement are:
Fibril-associated Collagen01:11

Fibril-associated Collagen

Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Fibrous Proteins00:55

Fibrous Proteins

Fibrous proteins are either long and narrow proteins or assemble to form long and thin structures. They contain repetitive units and usually consist of either alpha helices or beta sheets and, in rare cases, a mix of both. The amino acids in the primary structure often consist of repeating amino acid sequences. The role of fibrous proteins is primarily structural. Many are located in the extracellular matrix and are present in connective tissues to impart strength and joint mobility. They are...
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
Classification of Skeletal Muscle Fibers01:48

Classification of Skeletal Muscle Fibers

Skeletal muscles continuously produce ATP to provide the energy that enables muscle contractions. Skeletal muscle fibers can be categorized into three types based on differences in their contraction speed and how they produce ATP, as well as physical differences related to these factors. Most human muscles contain all three muscle fiber types, albeit in varying proportions.
Slow-Twitch Muscle Fibers
Slow oxidative, muscle fibers appear red due to large numbers of capillaries and high levels of...