For US Healthcare Professionals Only
This 75-minute recorded presentation, delivered by Dr. Michio Hirano at the UCB-sponsored Industry Forum during the MDA 2025 Conference, explores diagnostic approaches for mitochondrial myopathies. It compares the benefits and limitations of genetic testing panels, whole genome/exome sequencing, and muscle biopsy. Through a case review of thymidine kinase 2 deficiency (TK2d), the presentation highlights practical applications and outcomes of each method, and concludes with insights into the future of diagnostics in neuromuscular medicine.
Chapters
Name
Welcome, Introduction, Objectives
Chapter Time
00:00:00
Chapter Seconds
0
Name
Differential Diagnosis of a Rare Myopathy in Practice: A Clinical Case Discussion
Chapter Time
00:03:37
Chapter Seconds
217
Name
Background and Epidemiology of Mitochondrial Diseases
Chapter Time
00:12:21
Chapter Seconds
741
Name
Epidemiology of mitochondrial diseases
Chapter Time
00:12:21
Chapter Seconds
741
Name
Overview of mitochondrial diseases
Chapter Time
00:13:55
Chapter Seconds
835
Name
Overview of MDDSs
Chapter Time
00:16:04
Chapter Seconds
964
Name
Overlapping phenotypes of myopathic MDDS with other neurological and muscular diseases
Chapter Time
00:18:22
Chapter Seconds
1102
Name
TK2d: A Rare, Progressive, Devastating Mitochondrial Myopathy
Chapter Time
00:19:37
Chapter Seconds
1177
Name
Epidemiology of TK2d
Chapter Time
00:19:37
Chapter Seconds
1177
Name
Pathophysiology of TK2d
Chapter Time
00:20:36
Chapter Seconds
1236
Name
Presentation of TK2d
Chapter Time
00:21:17
Chapter Seconds
1277
Name
Patient video
Chapter Time
00:26:38
Chapter Seconds
1598
Name
Decoding the Genetic Blueprint: Diagnosis and the Importance of Genetic Testing
Chapter Time
00:30:09
Chapter Seconds
1809
Name
Overview of the diagnosis of mitochondrial myopathies
Chapter Time
00:30:09
Chapter Seconds
1809
Name
Challenges in the diagnosis mitochondrial myopathies
Chapter Time
00:32:19
Chapter Seconds
1939
Name
Genetic testing in the diagnosis of mitochondrial myopathies
Chapter Time
00:33:39
Chapter Seconds
2019
Name
Closing Remarks
Chapter Time
00:38:19
Chapter Seconds
2299
Name
Question and Answer Discussion
Chapter Time
00:39:50
Chapter Seconds
2390