Participant 121

Participant 121

At age 18 months, parents noticed that he fell frequently when walking. Later, he had difficulty standing up, and recently also lifting heavy objects.

Date of Report

Description

At age 18 months, parents noticed that he fell frequently when walking. Later, he had difficulty standing up, and recently also lifting heavy objects.
Walking has become progressively difficult, and now he can no longer  get up on his own. Developmentally he is completely normal, without intellectual disability (he is in an accounting university), and no concerns for hearing, vision, and language. He has a younger brother with similar signs and symptoms.


Symptoms / Signs

  • On physical exam he has proximal muscle weakness in all four limbs, with scapular winging, proximal and limb muscle atrophy, absent deep tendon reflexes
  • He also has mild scoliosis.
  • There is no sensory loss.
  • Plasma CK levels were normal, however the EMG showed a pattern consistent with progressive proximal muscular disease.

Current Treatments

  • Physical therapy.

Prior Treatments

  • None

Considered treatments

  • Physical therapy with Corticoids

Previously Considered Diagnoses

  • Limb-Girdle-Muscle Dystrophy or Becker muscular dystrophy

Genetic Variants of Interest

  • WES. DMD gene testing

Siblings, age & gender

17-year-old brother


Contact

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


Bio

M is a 19-year-old university student. He is very smart, and has always been among the bests in his class. He is determined to have a normal lifestyle despite his condition. Mahamadou likes music, videogames, and fashion dressing.


More pictures 

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