Limb Girdle Muscular Dystrophy

What is Limb Girdle Muscular Dystrophy?

Characterized by non-painful muscle weakness and wasting, early diagnosis and supportive treatment can slow the pace of this progressive muscle disease. All known mutations for muscular dystrophy lie in the DMD gene, which produces the protein dystrophin. Dogs affected with MD have abnormally low levels of functional dystrophin, leading to muscle fiber damage, progressive muscle wasting, and weakness. The most dramatic symptoms include difficulty walking and visible muscle wasting over the back and legs, the disease will also affect the muscles that control swallowing and breathing. Because MD is inherited in a recessive manner and dystrophin is located on the X chromosome, males are twice as likely as females to exhibit the disease. Current treatments for muscular dystrophy include steroid treatment, which can slow the progression of the disease, but there is currently no cure. However, much research has gone into gene therapy: researchers have recently demonstrated that supplementing the defective dystrophin gene of a dog with MD with a new, smaller form of dystrophin (known as microdystrophin) can fully substitute for full-sized dystrophin.

What are the signs & symptoms that develop in affected dogs?

This is a progressive muscle disease characterized by non-painful muscle weakness and wasting, especially over the shoulders and hips. However, the muscles of the heart and respiratory muscles can also be affected.

When do signs and symptoms develop?

Signs are often first apparent at 1-3 months of age.

How do vets diagnose this condition?

Genetic testing, clinical signs, and muscle biopsy can be used to diagnose this disorder.

How is this condition treated?

There is currently no treatment for this form of limb girdle muscular dystrophy.

More Information

This mutation was first described in Boston Terriers.

This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.

Gene names

SGCD ‐ chr4

Inheritance type

recessive

Citations

Cox et al 2017

Discover Your Dogʼs DNA Story

Embark Dog DNA Test for Breed Identification

Breed Identification Kit

Breed ID Kit

Learn about your dogʼs breed, ancestry, and relatives.

$129

LEARN MORE

Breed + Health Kit

Learn about your dogʼs breed, health, traits, ancestry, and relatives.

$149

LEARN MORE