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Participant 033


progressive muscle weakness

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Female, age 16 with progressive muscle weakness

Date of Report

Aug 25, 2017

Description

At the age of 8, the patient started having difficulty climbing at school. She was unable to pull herself onto a horse or get into the car. She also walked differently than other children due to a waddling walk and would run as if she had “lead in her shoes”. At age 9, her CK level was high (around 11,000). Muscle biopsies showed mild muscle disease (myopathy) without inflammation and an MRI showed muscle inflammation (myositis) in the pelvis, thigh, and calves. Genetic testing for a number of muscular dystrophies was negative. The patient now routinely uses a wheelchair and has weakness in her upper body.

The patient also has shallow breathing at night (exertional dyspnea) as well as during activity, which is partly why she uses her wheelchair daily. She has also had difficulty swallowing (dysphagia) liquids, but this is currently resolved. These symptoms were thought to be due to her muscle weakness. Some of her other symptoms include shrinking muscle fibers (muscle fiber atrophy) and abnormal electrical activity in her muscles (myopathic abnormalities).

Symptoms / Signs
  • Progressive muscle weakness
  • Shrinking muscle fibers (muscle fiber atrophy)
  • Difficulty swallowing (dysphagia)
  • Shortness of breath (exertional dyspnea)
  • Respiratory insufficiency due to muscle weakness
  • Abnormal walk (waddling gait)
  • Abnormal electrical activity of muscles (myopathic abnormalities)
  • Abnormal enzyme activity (abnormal lactate dehydrogenase activity)
  • Increased CK levels in blood (around 11,000)
  • Increased muscle enzyme level (elevated aldolase level)
  • Abnormal liver enzymes (elevated hepatic transaminases)
  • Involuntary urination (urinary incontinence)
Current Treatments
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Alpha dystroglycan-related muscular dystrophy
  • Limb girdle muscular dystrophy
  • Immune mediated myopathy
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic changes to see if they are causing the patient’s symptoms:

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
Autosomal dominant/Autosomal recessive
chr14:23883224
NM_000257
c.5647G>A
p.Glu1883Lys
Autosomal recessive
chr1:179887049 & chr1:179858444
NM_015602
c.1427C>T & c.554-4G>A
p.Ala476Val & N/A
Contact

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