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Life-Long Steroid Responsive Familial Myopathy With Docking Protein 7 Mutation.

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Two brothers with Docking protein 7 (DOK7) congenital myasthenic syndrome (CMS) showed sustained improvement with corticosteroid treatment. This diagnosis was confirmed 40 years after initial evaluation, highlighting a novel therapeutic response.

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Congenital myasthenic syndrome (CMS) presents with muscle weakness, often mimicking other myopathies.
  • Docking protein 7 (DOK7) mutations cause a specific subtype of CMS, typically treated with albuterol.
  • Diagnostic delays are common in rare genetic neuromuscular disorders.

Purpose of the Study:

  • To report the long-term effects of corticosteroid treatment in patients with DOK7-CMS.
  • To highlight the diagnostic challenges and eventual genetic confirmation in a unique case series.
  • To investigate potential alternative therapeutic responses in DOK7-CMS.

Main Methods:

  • Clinical evaluation of two brothers with progressive limb-girdle weakness.
  • Review of extensive diagnostic workup including muscle biopsy and laboratory studies over 40 years.
  • Genetic analysis to confirm the diagnosis of DOK7 congenital myasthenic syndrome.

Main Results:

  • Patients presented with progressive biceps weakness, initially unresponsive to standard CMS therapies.
  • A sustained and significant benefit was observed with long-term prednisone treatment over several decades.
  • Genetic testing confirmed DOK7-CMS, establishing a definitive diagnosis after a prolonged period.

Conclusions:

  • DOK7-CMS can present with atypical symptoms and diagnostic delays.
  • Corticosteroids may provide sustained therapeutic benefit in a subset of DOK7-CMS patients.
  • Genetic diagnosis is crucial for identifying rare neuromuscular conditions and understanding varied treatment responses.