Muscular dystrophies and mitochondrial myopathies: Pathology review


00:00 / 00:00



Muscular dystrophies and mitochondrial myopathies: Pathology review

Musculoskeletal system

Pediatric musculoskeletal conditions

Radial head subluxation (Nursemaid elbow)

Developmental dysplasia of the hip

Legg-Calve-Perthes disease

Slipped capital femoral epiphysis

Transient synovitis

Osgood-Schlatter disease (traction apophysitis)

Musculoskeletal injuries and trauma

Rotator cuff tear

Dislocated shoulder

Radial head subluxation (Nursemaid elbow)

Winged scapula

Thoracic outlet syndrome

Carpal tunnel syndrome

Ulnar claw

Erb-Duchenne palsy

Klumpke paralysis

Iliotibial band syndrome

Unhappy triad

Anterior cruciate ligament injury

Patellar tendon rupture

Meniscus tear

Patellofemoral pain syndrome

Sprained ankle

Achilles tendon rupture



Degenerative disc disease

Spinal disc herniation


Compartment syndrome


Bone disorders

Osteogenesis imperfecta


Pectus excavatum


Genu valgum

Genu varum

Pigeon toe

Flat feet

Club foot

Cleidocranial dysplasia



Bone tumors




Osteomalacia and rickets


Paget disease of bone


Lordosis, kyphosis, and scoliosis

Joint disorders



Spinal stenosis

Rheumatoid arthritis

Juvenile idiopathic arthritis


Calcium pyrophosphate deposition disease (pseudogout)

Psoriatic arthritis

Ankylosing spondylitis

Reactive arthritis


Septic arthritis


Baker cyst

Muscular disorders

Muscular dystrophy



Inclusion body myopathy

Polymyalgia rheumatica



Neuromuscular junction disorders

Myasthenia gravis

Lambert-Eaton myasthenic syndrome

Other autoimmune disorders

Sjogren syndrome

Systemic lupus erythematosus

Mixed connective tissue disease

Antiphospholipid syndrome

Raynaud phenomenon


Limited systemic sclerosis (CREST syndrome)

Musculoskeletal system pathology review

Back pain: Pathology review

Rheumatoid arthritis and osteoarthritis: Pathology review

Seronegative and septic arthritis: Pathology review

Gout and pseudogout: Pathology review

Systemic lupus erythematosus (SLE): Pathology review

Scleroderma: Pathology review

Sjogren syndrome: Pathology review

Bone disorders: Pathology review

Bone tumors: Pathology review

Myalgias and myositis: Pathology review

Neuromuscular junction disorders: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review


Muscular dystrophies and mitochondrial myopathies: Pathology review

USMLE® Step 1 questions

0 / 8 complete


USMLE® Step 1 style questions USMLE

of complete

A 20-year-old woman is evaluated in the emergency department for a suspected generalized tonic-clonic seizure. The episode occurred an hour ago when she was with her roommate, who states the patient started uncontrollably flexing and extending her upper and lower limbs for 1 minute. She has a history of recurrent seizures for the past 2 years, and she lost partial vision due to occipital lobe infarction last year. Family history is not available because the patient was adopted as a child. Neurological examination shows decreased sensation and weakness of bilateral lower extremities. The patient is admitted for further evaluation. Serum lactate levels are 3.3 mmol/L. Skeletal muscle biopsy shows proliferation of mitochondria that appear bright red compared to the blue myofibers when stained with Gomori trichrome stain. This patient’s condition is best described as which of the following?

Memory Anchors and Partner Content


Content Reviewers

Antonia Syrnioti, MD


Antonella Melani, MD

Evan Debevec-McKenney

Talia Ingram, MSMI, CMI

At the clinic, 32 year old mary comes with her 6 year old son thomas, after noticing he’s often clumsy, weak, and has trouble climbing the stairs of their house. Mary is worried because she had a brother who presented the same symptoms as a child, and developed progressive weakness, until he passed away at 23 years old due to respiratory problems. Upon physical examination, the physician notices that thomas has scoliosis and thick calves. Later that day, 29 year old sarah comes to the clinic with her 10 year old son mike because of progressive muscle weakness and fatigue, as well as vomiting and loss of appetite. In addition, she mentions that he has experienced seizures.

Based on the clinical findings, the physician concludes that both children have some form of inherited muscular disorder, and orders genetic testing to confirm the diagnosis. Now, let’s go over the two main groups: muscular dystrophies and mitochondrial myopathies.

Muscular dystrophies are a group of genetic disorders characterized by muscle degeneration and weakness. Within that group, dystrophinopathies are the most common, and this includes duchenne muscular dystrophy, or dmd for short, and becker muscular dystrophy, or bmd.

Both duchenne and becker result from mutations in the dystrophin gene, which is found on the x chromosome. For your exams, remember that these are x-linked recessive disorders, which means that all carrier males develop the disease, because they only have one x chromosome and thus one dystrophin gene available. On the other hand, females have two x chromosomes, so even if they have a defective dystrophin gene on one x chromosome, they still have another functional one. However, only one x chromosome gets expressed and the other is inactivated through a process called x-inactivation or lyonization. This inactivation is random which means that every cell could have a chance of having the mutated x chromosome be the active copy. If this is the case for more than half of the muscle cells, they will be a manifesting carrier who will develop symptoms. People with more cells with the active mutated x chromosome will have more severe symptoms and quicker disease progression. If less than half of their cells have the active mutated x chromosome, they’ll be an asymptomatic carrier and won’t develop symptoms.


  1. "Robbins Basic Pathology" Elsevier (2017)
  2. "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
  3. "Distal muscular dystrophies" Handbook of Clinical Neurology (2011)
  4. "Muscular Dystrophies" Elsevier Science Limited (2011)
  5. "Facioscapulohumeral Muscular Dystrophy" CONTINUUM: Lifelong Learning in Neurology (2016)
  6. "Cognitive Neuroscience: The Biology of the Mind (Fourth Edition)" W. W. Norton (2013)
  7. "Loose-leaf Version for Genetics: A Conceptual Approach" Macmillan Higher Education (2019)
  8. "Inheritance of most X-linked traits is not dominant or recessive, just X-linked" American Journal of Medical Genetics (2004)

Copyright © 2023 Elsevier, except certain content provided by third parties

Cookies are used by this site.

USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.