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Participant 169


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

 

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

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 de novo genetic change to be causing the participant’s symptoms.

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
LMNA
see gene page
see gene page
see gene page
see gene page
see gene page
Contact

If this participant sounds like you or someone you know, please contact us!

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