There are days when I feel like my memory is doing a bit of its own dystrophy—especially when faced with syndromes that have multi-system tentacles like myotonic dystrophy.
This condition doesn’t just affect muscles—it throws shade at your hairline, your eyes, your heart, and even your intellectual stamina. Thankfully, someone with a passion for alphabets and pity for med students came up with this beautiful mnemonic:
🧠 Mnemonic: “A-B-C-D-E-F-G-H-I”
| Letter | Feature | Explanation |
|---|---|---|
| A | Atrophy (or Autosomal dominant) | Especially distal muscle wasting—hands, forearms. Classic “wasted handshake.” |
| B | Baldness (frontal, especially in males) | Ironic how your hair vanishes before your grip does. 🧓🏼 |
| C | Cataracts (or Chromosome 9 abnormality) | Subcapsular—often early-onset. So yes, cataracts aren’t just for your grandmother. 👁️ |
| D | Droopy eyes, Dysphagia, or Diabetes | Weak extraocular muscles, trouble swallowing, and insulin resistance from end-organ insensitivity. Metabolic drama included. 🍩 |
| E-F | Expressionless Face or Forehead wasting | Giving “poker face” a whole new neurologic meaning 🎭 |
| G | Gonadal atrophy | Small testes or ovarian failure; pituitary fossa often hypoplastic. Not ideal fertility news. 🥚 |
| H | Heart issues (Cardiomyopathy, conduction defects) | Sudden cardiac death? Sadly, yes—Dr. Imran Baloch and I always check ECGs vigilantly in these patients. 💓 |
| I | Immunoglobulin deficiency, Intellectual decline | Low IgG, mild cognitive issues. IQ may drift a bit, but personality stays delightfully intact. 🧪🧠 |
🏥 A Memorable Clinical Encounter from Mashkai
One of my most striking cases was a farmer from Mashkai, a small village tucked into the Balochistan mountains. He came with muscle weakness, but what stood out was his long, narrow face, premature baldness, and a handgrip that couldn’t unclench—classic myotonic grip.
Dr. Basit Khan pointed out his slow cardiac rhythm on ECG. Turned out he had conduction defects and needed close cardiac monitoring.
He joked that his grip was tighter on his tractor steering wheel than his wife’s hand. Well, we fixed the heart part—marriage counseling wasn’t in the referral list. 😅
🧠 Clinical Nuggets
- Genetic basis: Myotonic dystrophy type 1 is due to CTG repeat expansion on chromosome 19, affecting the DMPK gene. (Type 2 has a different culprit on chromosome 3.)
- Prognosis: Progressive, but variable. Cardiac and respiratory complications can be life-limiting.
- Key signs: Distal muscle weakness > proximal, myotonia (delayed muscle relaxation), and the peculiar “hatchet face” appearance.
