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Participant 065


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Male, age 7 with an undiagnosed neuromuscular disorder

Date of Report

May 11, 2018

Description

The participant was healthy and developing normally until age 3. At this time, his parents noticed that he was walking with a waddling gait. Since then, the participant has had difficulty climbing stairs, running, and getting up from a squatted position (Gowers sign). He also has an irregular heartbeat (arrhythmia) and experiences difficulty breathing (moderate restrictive ventilatory defect).

Some of his other symptoms include low muscle tone (muscular hypotonia), muscle weakness (proximal muscles), sideways curve of the spine (scoliosis), poor appetite, and elevated levels of creatine phosphokinase in the blood (elevated serum creatine phosphokinase).

Symptoms / Signs
  • Muscle weakness (proximal muscles)
  • Muscle tissue disease (myopathy)
  • Muscle inflammation (myositis)
  • Elevated levels of creatine phosphokinase in blood (elevated serum creatine phosphokinase)
  • Low muscle tone (muscular hypotonia)
  • Difficulty getting up from squatted position (Gowers sign)
  • Difficulty climbing stairs
  • Difficulty running
  • Gait disturbance
  • Waddling gait
  • Irregular heartbeat (arrhythmia -borderline Brugada pattern)
  • Difficulty breathing (moderate restrictive ventilatory defect)
  • Protruding shoulder blades (bilateral scapular winging)
  • Sideways curve of the spine (scoliosis)
  • Exaggerated inward curve of the spine (lumbar hyperlordosis)
  • Decreased body weight
  • Difficulty growing (failure to thrive)
  • Poor appetite
  • Feeding difficulties
  • Light colored birth mark (café-au-lait spot)
  • Deep set nails
  • Flat feet (pes planus)
  • Broad toe
  • Elevated liver enzymes (elevated hepatic transaminases)
  • Abnormal antibody level (increased IgG level)
  • Decreased levels of creatine in blood (decreased serum creatine)
Current Treatments
Prior Treatments
  • Prednisonemuscle tissue disease
Considered treatments
Previously Considered Diagnoses
  • Duchenne muscular dystrophy (DMD)
  • Limb girdle muscular dystrophy
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Pompe disease
  • Single gene disorder- exome sequencing non-diagnostic
  • Spinal muscular atrophy (SMA)
Other Photographs
Genetic Variants of Interest
Contact

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