Participant 120

Participant 120

Symptoms started around 1 year of age when parents noticed that the patient was walking on his toes. Gait was abnormal, and has was able to run only slowly.

Date of Report

Description

Symptoms started around 1 year of age when parents noticed that the patient was walking on his toes. Gait was abnormal, and has was able to run only slowly. Later, he began having difficulties getting up from his bed and from a chair. Six years ago, he develped shaking in his extremities after an effort. Symptoms have worsened over time, limiting his movements and daily activities.


Symptoms / Signs

  • On physical exam, he has weakness in all four limbs,  predominantly proximal,  associated with atrophy involving the proximal areas (deltoids, quads) and interosseous muscles, scapular winging, absent reflexes in his lower limbs.
  • Has a positive Gowers sign and a  waddling gait. Plasma CK levels were slightly elevated, and the EMG was abnormal showing a myopathic pattern.

Current Treatments

  • Physical therapy.

Prior Treatments

  • Unknow

Considered treatments

  • Physical therapy.

Previously Considered Diagnoses

  • Limb-Girdle-Muscular dystrophy. Becker muscular dystrophy.

Genetic Variants of Interest

  • WES. DMD gene testing

Siblings, age & gender

19-year-old brother


Contact

If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org


Bio

A is a 17-year-old boy, full of joy and willing to discover new things. Despite the tough time he is going through, he managed to develop a good philosophy of life. He likes Hip-Hop music and dressing like a rapper with fashion sneakers.


More pictures 

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