Ruth went through four major cycles of diagnostic testing between delivery and her diagnosis of Congenital Myasthena Gravis [CMG] via an Electromyograph [EMG] on August 2, 2005.

The table below lists Ruth's results among the standard methods of diagnosis for neuromuscular diseases.

Disclaimer: The unedited source of the table below is found on MDA's Web Site (middle of page).

Type Test What It Shows Ruth's Results 1995 Ruth's Results 2001 Ruth's Results 2002 Ruth's Results 2005

Blood Enzyme Test

pic		 1. Lactate and pyruvate levels 1. If elevated, may indicate deficiency in respiratory chain; abnormal ratios of the two may help identify the part of the respiratory chain that is blocked. 1. Unknown if test performed. 1. Normal. 1. N/A 1. N/A
2. Serum creatine kinase 2. May be slightly elevated in mitochondrial disease but usually only high in cases of mitochondrial DNA depletion. 2. Unknown if test performed. 2. Normal. 2. N/A 2. N/A

Muscle Biopsy

pic		 1. Histochemistry 1. Detects abnormal proliferation of mitochondria and deficiencies in cytochrome C oxidase (COX) activity. 1. Normal Tissue, very low COX enzymes (suspect diagnosis). 1. Normal. 1. N/A 1. N/A
2. Immuno-histochemistry 2. Detects presence or absence of specific proteins -- can rule out other diseases or confirm loss of respiratory chain proteins. 2. Test inconclusive. 2. Normal. 2. N/A 2. N/A
3. Electron microscopy 3. May confirm abnormal appearance of mitochondria. Not used much today. 3. Unknown if test performed. 3. Normal muscle structure, but abnormally high ratio of Type 1 ("slow-twitch") muscle fibers. 3. N/A 3. N/A
4. Biochemistry 4. Measures activities of specific respiratory chain enzymes. A special test called polarography measures oxygen consumption in mitochondria. 4. Very low COX enzymes (suspect diagnosis). 4. Normal COX enzymes, addt'l results pending. 4. N/A 4. N/A

Molecular Test

pic		 1. Known mutations 1. Uses blood sample or muscle sample to screen for known mutations, looking for common mutations first. 1. No known mutations. 1. No known mutations. 1. N/A 1. N/A
2. Rare or unknown mutations 2. Can also look for rare or unknown mutations but may require samples from family members; this is more expensive and time-consuming. 2. Tests for unknown mutations not performed. 2. Results pending for FSH Dystrophy. 2. Negative for FSH Dystrophy 2. N/A

Electromyography

pic		 Surface and/or needle stimulation of muscle using pulses of electricity. Used to diagnose disorders of the neuromuscular junction. Disorders that weaken the nerve's connection to a muscle will produce abnormal electrical activity in muscles (Myasthenias produce decrements) Inconclusive, with Tensilon. N/A N/A Indications for Congenital Myasthenia Gravis, with Tensilon.
1