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Participant 157


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Male, age 36, with distal myopathy 5 (OMIM 617030) caused by changes in the ADSSL1 gene

Date of Report

Feb 18, 2020

Description

The participant noticed that he was weaker than his peers in childhood. At age 23, he noticed difficulty getting up from a squatting position and climbing stairs, and began experiencing progressive muscle weakness involving muscles in his arms, legs, face, and eyes. He also developed heart muscle disease (dilated cardiomyopathy) and reduced lung volume (restrictive lung disease). He underwent a muscle biopsy that showed muscle cell death (skeletal muscle necrosis) and wasting (dystrophic changes) and the presence of rare abnormal vacuoles (rimmed vacuoles). His doctors also noted that he has abnormal scarring (atrophic scarring) and stiff elbow joints (elbow flexion contracture).

Symptoms / Signs
  • Proximal muscle weakness
  • Distal muscle weakness
  • Heart muscle disease (dilated cardiomyopathy)
  • Reduced lung volume (restrictive lung disease)
  • Muscle wasting (dystrophic changes on muscle biopsy)
  • Muscle cell death (necrotizing skeletal myopathy)
  • Rimmed vacuoles on muscle biopsy
  • Drooping eyelids (bilateral ptosis)
  • Dry eyes (keratoconjunctivitis sicca)
  • Facial muscle weakness (facial palsy)
  • Involuntary tight closure of the eyelids (blepharospasm)
  • Abnormal scarring (atrophic scars)
  • Stiff elbow joints (elbow flexion contracture)
Current Treatments
  • Carvedilol
  • Lisinopril
Prior Treatments
  • Immunomodulatory treatment
  • Prednisone
Considered treatments
Previously Considered Diagnoses
  • Inflammatory myopathy
  • Muscular dystrophy
  • Polymyositis
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
ADSSL1
Autosomal recessive
chr14:g.105207568G>A
NM_199165.2
c.910G>A
p.Asp304Asn
Contact

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