Age of Onset
Duchenne's Muscular Dystrophy
2-3 years,
Asthenia
Weakness
Shiva, a clumsy 8 years old, presents to you. He complains of feeling very tired after a few minutes of play, takes long to walk up his granny's staircase and has to roll off his bed since he cannot raise himself upright.
Duchenne's Muscular Dystrophy
Dystrophia Myotonica
20-30
A disease/trait a person is born with is deemed as...
Congenital
Aiden, a 20 year old Vet Med student, meets you going to skills. He greets you with a handshake and you notice that his grip is unusually weak and he takes a while to let go of your hand. He says that his girlfriend nearly died of fright last night as she claimed he had stopped breathing while asleep. As a joke you use your stethoscope to check his respiration and notice that he has an irregular heartbeat.
Myotonic Dystrophy
Emery-Dreifuss Muscular dystrophy (EDMD)
Around 10
Difficulty in swallowing
Dysphagia
You visit your friend Vikash, who lives with his mobile, 80-year old, hunchbacked, great-grandmother, for a sleepover. They put you to sleep next to Mama, and during the night you wake to use the washroom, coming face to face with her mouth wide open and eyes are half closed. The next morning you are startled awake by blender noises and find Vikash liquidating a doubles to syringe down Mama's throat since she has trouble swallowing solids. You suspect MD.
Oculopharyngeal
Limble Girdle
variable
Hypotonia
Floppy Baby syndrome
You go to a family event and notice your 9 year old cousin walking like an Egyptian the entire night. She keeps her hands elevated when dancing until they drop, however, her elbow does not bend. Suddenly she collapses. Her mother laughs this off and says she always does this and it's just a phase, however, you believe otherwise.
Emery-Dreifuss Muscular dystrophy (EDMD)
Occulopharyngeal
40-50
Unilateral asthenia is termed
Hemiparesis
A 6-week-old male infant presented to the emergency Department with a history of poor feeding and fever for several days and a rag-doll like look. His parents reported that he had been "more sleepy than usual" and had a weak cry. He had not passed any stool for five days. He was receiving a topical home herbal remedy for whitish lesions in his mouth. The rest of his review of systems and past medical history was non-contributory. He was immediately put on ventilatory support due to apnea.
Congenital Muscular Dystrophy (CMD)