background participants

Participant 013

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 49, with muscle weakness, balance problems, clumsiness, muscle twitching (fasciculations) and cramps, abnormal heart rhythm (second-degree AV block), episodes of high potassium (hyperkalemia), restrictive lung disease, double vision (diplopia), and seizures

Date of Report

Nov 21, 2016


The patient was in excellent health until age 45 when she started to notice muscle weakness and difficulty keeping up while playing sports.  Her muscle weakness has continued to worsen and she now has balance problems, muscle twitching (fasciculations) and cramps, and difficulty with coordination. She has significant respiratory muscle weakness and requires nocturnal bi-level ventilation (BiPAP).

The patient has double vision (diplopia on lateral gaze) with weakness (opthalmoplegia) and started having seizures (left temporal lobe focus). These seizures are now controlled with carbamazepine treatment and a pacemaker.

The patient also has an abnormal heart rhythm (second-degree AV block) and had a pacemaker implanted at age 48. Based on recent imaging findings, she has probable early heart disease (cardiomyopathy).

She has been diagnosed with a potassium channel disease (channelopathy) with impaired renal excretion, and has had several episodes of extreme high potassium (hyperkalemia) with dramatic ECG changes, respiratory failure, and very low serum phosphate.

The patient also has stage 3 thyroid cancer (multifocal papillary).

Symptoms / Signs
  • Muscle weakness (primarily in limb-girdle distribution)
  • Protruding shoulder blades (scapular winging)
  • Muscle twitching (fasciculations) and cramps
  • Significant respiratory muscle weakness on nocturnal BiPAP
  • Abnormal muscle biopsies (abundance of “moth eaten” fibers, increased sub-sarcolemmal accumulation of mitochondria, disruption of internal architecture of type II fibers)
  • Impaired potassium excretion by the kidneys (pseudohypoaldosteronism)
  • Episodes of very high potassium (extreme hyperkalemia, to 9)
  • Balance problems, clumsiness, mild tremor, ataxia
  • Cytochrome c oxidase deficiency
  • Multiple mitochondrial DNA deletions
  • Seizures (left temporal lobe focus)
  • Double vision (diplopia on lateral gaze) with weakness (opthalmoplegia)
  • Abnormal heart rhythm (second-degree AV block)
  • Early heart disease (cardiomyopathy) (decreasing ejection fraction, severely dilated left atrium, eccentric left ventricular hypertrophy, moderate pericardial effusion, dilated main pulmonary artery)
  • Stage 3 thyroid cancer (multifocal palillary)
  • Low blood sugar (hypoglycaemia)
  • Low white blood cell levels (leukopenia)
  • Low lymphocyte levels (lymphopenia)
  • Mild anemia (likely hemolytic)
  • Cerebral folate deficiency (high levels of anti-folate antibodies)
  • Elevated IgM
  • Raynaud’s disease
  • Abnormal calcification in the kidneys (diffuse renal cortical nephrocalcinosis with retraction and scarring of cortex)
  • Low urea excretion in urine
  • High creatinine excretion in urine
  • Amino acid abnormalities (elevated amino acid levels in urine, decreased amino acid levels in cerebrospinal fluid)
Current Treatments
  • Carbamazepine- seizures
  • Florinef- high potassium
  • HCTZ- high potassium
  • Leucovorin- cerebral folate deficiency
  • Mitochondrial cocktail (coenzymeQ10, creatine, alpha lipoic acid, vitamin E)- possible mitochondrial condition
  • Omega-3- neuro-protective effects
  • N-acetylcyteine- neuro-protective effects
  • Nocturnal bi-level ventilation (BiPAP)- restrictive lung disease
  • Plasmapheresis
  • Synthroid- post-thyroidectomy for cancer
  • Vitamin D- low vitamin D
Prior Treatments
  • Pacemaker- second-degree AV block
  • Thyroidectomy- cancer
Considered treatments
Previously Considered Diagnoses
  • Mitochondrial disease
  • Paraneoplastic/antibody-mediated syndrome
  • Dystrophic disease/titinopathy
  • Carnitine deficiency
  • Central core disease
  • Hyperarginemia
  • Laminopathy
  • Pompe disease
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:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant
Autosomal recessive

If this participant sounds like you or someone you know, please contact us!


The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.