Participant 122

Participant 122

He presented at age 6 years, with difficulty with walking and frequent falls, as well as difficulty standing from a seated position or lifting things. Also, he cannot keep up with peers when running.

Date of Report

Description

He presented at age 6 years, with difficulty with walking and frequent falls, as well as difficulty standing from a seated position or lifting things. Also, he cannot keep up with peers when running. He has a half-brother (same mother) and uncles who presented same symptoms.


Symptoms / Signs

  • Proximal weakness more pronounced in lower limbs associated with Gowers sign, calf hypertrophy, and scapular muscle atrophy.
  • Idiomotor reflexes are absent, and sensory is normal.
  • Plasma CK levels are slightly high, and the EMG was consistent with progressive muscular disease.
  • Cardiac exam was normal.

Current Treatments

  • No current treament

Prior Treatments

  • Corticoids

Considered treatments

  • Physical therapy with Corticoids

Previously Considered Diagnoses

  • Duchenne muscular dystrophy

Genetic Variants of Interest

  • DMD gene testing

Siblings, age & gender

21 year old half-sister, half-brother who died


Contact

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


Bio

A is a 12-year-old boy with a handsome smile. He overall seems very reserved. He loves playing soccer with his friends in the neighborhood and is managing to look like every boy of his age.


More pictures 

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