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Participant 169


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Male, age 8 with muscle weakness, hypotonia, and elevated serum creatine kinase caused by a variant in LMNA

Date of Report

Jul 20, 2020

Description

The participant’s parents first noticed delays in his motor development around 2 years old. He began walking at 15 months but was unsteady on his feet. He had an abnormal gait while walking and muscle weakness mostly in his upper arms and legs (proximal muscle weakness). He also had low muscle tone (hypotonia). He has consistently had elevated creatine kinase, which can indicate muscle damage. A muscle biopsy showed chronic myopathy suggestive of a dystrophic process. At 4 years old he had a borderline dilated left ventricle with normal function.

Currently the participant is able to walk and run but is still unsteady. He uses a handrail in order to climb stairs.

Symptoms / Signs
  • Gait disturbance
  • Muscle weakness
  • Elevated serum creatine kinase
  • Low muscle tone (muscular hypotonia)
  • Myopathy
  • LMNA-related muscular dystrophy
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Duchenne muscular dystrophy/Becker muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • LMNA-related disorder
  • Metabolic condition
  • Myositis
  • Myotonic dystrophy
  • Nemaline myopathy
  • Neuromuscular disorders
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic change to be causing the participant’s symptoms.

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
see gene page
see gene page
see gene page
see gene page
see gene page
Contact

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