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Zaspopathy

ZASP-related myofibril myopathy

Overview

Zaspopathy (also called ZASP-related myofibril myopathy), is a novel autosomal dominant form of progressive muscular dystrophy, first described in 2005. The disease encompasses multiple forms of both distal (more frequent) and proximal myopathies, and is caused by mutations in the gene referred to as ZASP. 

Myofibrillar myopathies (MFM) are a group of neuromuscular disorders characterized by slowly progressive weakness that can involve both proximal muscles (such as hips and shoulders) and distal muscles (those farther away from the trunk). Some affected individuals also experience sensory symptoms, muscle stiffness, aching, or cramps. Peripheral neuropathy or cardiomyopathy may also be present. Most people with MFM begin to develop muscle weakness in mid-adulthood, but features of the condition can appear anytime between infancy and late adulthood.

Symptoms - Zaspopathy

Symptoms includes (depending on affected individual):

  • Muscle weakness in hands and/or feet (distal muscles)
  • Weakness in the muscles near the center of the body (proximal muscles)
  • Swallowing and speech difficulties (facial muscle weakness)
  • Cadiomyopathy
  • Myalgya (muscle pain)
  • Loss of sensation and weakness in the limbs (peripheral neuropathy)
  • Respiratory failure
  • Joint stiffness (contractures)
  • Scoliosis

Causes - Zaspopathy

Zaspopathy is caused by mutations in the ZASP gene, located on chromosome 10, LDB3 (ZASP) gene/LIM domain-binding protein 3.

 

Prevention - Zaspopathy

Not available

Diagnosis - Zaspopathy

Diagnosis of Zaspopathy is based on:

  • magnetic resonance imagery, where muscle sections are examined from pelvic girdle, thighs and lower leg muscles
  • electromyography (measuring the response of muscles to an electrical stimulus)
  • nerve conduction studies 
  • sequencing for the ZASP gene mutation 
  • creatine kinase test (a test of an enzyme that provides information about the health of the muscles)

Prognosis - Zaspopathy

In general, when symptoms first present in early childhood the disease is more severe than when symptoms present later in adulthood. Although the exact signs and symptoms for each patient cannot be predicted, if problems are managed well an individual can be expected to have a normal life expectancy.

Treatment - Zaspopathy

Treatment depends on the individual but may include:

• physical therapy and assistive devices (e.g. wheelchair)

• patients with cardiomyopathy may consider implantation of a mechanical device to regulate heartbeat (pacemaker) and cardioverter defibrillator (ICD). In severe cases, a heart transplantation may be considered 

• Respiratory therapy may also be helpful for those with advanced muscle weakness.

• Orthotics may be helpful if foot drop develops.

Resources - Zaspopathy

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