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Participant 033


progressive muscle weakness
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Female, age 17, with limb-girdle muscular dystrophy type 2Y caused by changes in the TOR1AIP1 gene.

Date of Report

Apr 05, 2018

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 have identified the following genetic changes to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
TOR1AIP1
Autosomal recessive
chr1:g.179887049C>T & chr1:g.179858444G>A
NM_015602.3
c.1427C>T & c.554-4G>A
p.Ala476Val & N/A
Contact

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