Myotubular myopathy

Disease overview

Myopathy is a disorder of the skeletal muscle. This form is inherited by Labrador Retrievers due to a mutation in a protein-producing gene thought to be involved in muscle stability. As a result, muscle cells do not form correctly, and during growth the muscles malfunction and get damaged.

Gene name

MTM1

Inheritance

X-linked recessive

Signs and symptoms

Affected dogs present with signs at or near birth that may not be noticed until 10-14 weeks of age. These may include weakness, muscle wasting, poor muscle tone, lack of muscle control, gait abnormalities, and respiratory difficulties. This is a severe disease.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Neurological tests and/or a muscle biopsy may be indicated for a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Labrador Retriever, Rottweiler, Boykin Spaniel

Citations

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3. PMID: 20682747; PMCID: PMC2930454.

Shelton GD, Rider BE, Child G, Tzannes S, Guo LT, Moghadaszadeh B, Troiano EC, Haase B, Wade CM, Beggs AH. X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene. Skelet Muscle. 2015 Jan 27;5(1):1. doi: 10.1186/s13395-014-0025-3. PMID: 25664165; PMCID: PMC4320619.

Olby NJ, Friedenberg S, Meurs K, DeProspero D, Guevar J, Lau J, Yost O, Guo LT, Shelton GD. A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels. Neuromuscul Disord. 2020 May;30(5):353-359. doi: 10.1016/j.nmd.2020.02.021. Epub 2020 Mar 5. PMID: 32417001; PMCID: PMC7532942.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.