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Centronuclear Myopathy (Labrador Retriever Type) Overview

Centronuclear Myopathy (Labrador Retriever Type)
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Category: Neurologic (Associated with the Brain, Spinal and Nerves)

Gene: 3-hydroxyacyl-CoA dehydratase 1 (HACD1) also known as PTPLA on chromosome 2

Variant Detected: 236 bp SINE repeat insertion in exon 2 of HACD1

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. This causes insuficient muscle function in Labrador Retrievers. At first, puppy will seem normal, but with puppy’s aging, Labrador Retriever Centronuclear myopathy symptoms starts to show. Within 2 to 5 months clinical features in pups will include hypotonia, generalized muscle weakness, abnormal postures, stiff hopping gait, exercise intolerance and increased collapse when exposed to cold. On examination, there is evidence of skeletal muscle atrophy, particularly involving muscles of the head and tendinous areflexia. Histopathological evaluation of muscle biopsies demonstrates a characteristic centralization of myonuclei, often located in areas devoid of myofibrils with mitochondrial aggregation. No cure for centronuclear myopathy has been developed and affected dog will never develope properly functioning muscle tissue. Dog can live normally, but limited and affected by symptoms of centronuclear myopathy.

Research Citation(s): Pele et al. Hum Mole Genet, SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs (2005) 14;11, 1417-1427

Associated Breed(s): Mixed Breed,  Labrador Retriever,  Labradoodle ,  Australian Cobberdog,  Australian Labradoodle ,