X-Linked Tremors

Body function:

Muscle & Neurological

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X-linked tremors, also known as Shaking Pup Syndrome or hypomyelination, is a severe neurological disorder found in English Springer Spaniels. The condition is caused by a mutation in the PLP1 gene on the X chromosome and is inherited in an X-linked recessive pattern. Males with one copy of the mutation exhibit the full range of symptoms and will pass the mutation to all their female offspring. Females require two copies of the mutation to develop the disease but can carry and transmit the gene if they have only one copy. This disorder affects the normal development of nerve fibers' myelination, leading to significant neurological and motor dysfunction.

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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

English Springer Spaniel

A black and white dog with a happy expression is looking up at the camera with its mouth open. The dog's ears are perked up, and it appears to be excited.

What does this mean for a dog with this trait?

There is no cure for this condition, and the primary focus is on supportive care to ensure comfort and minimize suffering. This includes creating a safe and comfortable living environment to prevent injuries due to coordination problems.

Symptoms

Symptoms of X-linked tremors typically become apparent from birth. Affected puppies struggle with balance, coordination, and proprioception, often standing with their legs spread wide and exhibiting clumsiness in their movements. They may experience tremors in their limbs and head, particularly during periods of excitement, such as mealtimes. As the disease progresses, symptoms can worsen, potentially leading to seizures. Affected puppies often exhibit severe motor difficulties, making basic functions like standing, walking, and eating challenging.

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