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Neuromuscular diseases > NMuscular > Flashcards

Flashcards in NMuscular Deck (105)
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1

DMD, when do symptoms appear?
When average age of diagnosis?

Symptoms: 2.5 years
Diagnosis: 5

2

Typical Development DMD

Not smart to start
Delayed motor, language, cognitive
Slower ambulatory gains (4-7)
Declining strength and lungs (7-13)

3

Most famous tests for DMD

Gower's

4

Specific components of lower motor neurons

1. Anterior Horn
2. Peripheral nerve
3. Neuromuscular junction (NMJ) - pre/post synapse
4. Muscle

5

Endocrine in Myotonic Dystrophy

Hypothyroid
Insulin resistence

6

What do DMD patients need for their hearts?

Automatic defibrillator

7

What sense needs to be monitored with FSHD

Hearing!!!
Coates syndrome (early onset FSHD)

8

New genetic types of LGMD

Sarcoglycanopathies
dysferlinopathies
calpainopathis
FKRP (Fukutin) opathies

9

Lead

-anorexia
-nausea and vomiting
-fatigue
-clumsiness and ataxia
-cognitive impairment
Electrodiagnostic: axonal degeneration motor > sensory
-Lead lines in bones

10

Chromosom for all Spinal Muscular Atrophy (SMA)

5q13

11

What is Narp (mitochondrial disease)

limb weakness, sensory neuropathy, ataxia

12

CIDP

Like AIDP but comes and goes and stays

13

Two types of Myotonic muscular dystrophy

DM1 (distal)
DM2 (proximal)

14

What is FSHD

Fascioscapulohumeral Muscular Dystrophy

15

What is "second wind" in McArdle's

With onset of myalgia, resting allows continuation with no symptoms

16

List Congenital Myopathies

Central Core
Nemaline Myopathy
Centronuclear
Severe x-linked Centronuclear (myotubular) Myopathy
Minicore disease
Congenital Fiber-Type Size Disproportion

17

Infantile botulism

Presents between 10 days to 6 months
acute onset: Hypotonia, dysphagia, weak cry, respiratory insufficiency
Exam: weakness diffuse, ptosis, ophthalmoplegia with dilation pupils, reduced gag, ok DTRs

18

McArdle's onset

Poor endurance during childhood
Exercise induced cramps and myalgia
Symptoms precipitated by lifting weights or stairs

19

Benefit of aerobic exercise

Improve strength
Better cardiac pump function
Improved exercise performance

20

Loci for DMD

Xp21
Codes for the protein dystrophin

21

Loss of ambulatory milestones DMD

lose jump, hop, run
Gower's
Sit up from supine
Stairs
walk
stand in place

22

What does respiratory compromise due in dystrophies

Hypercapnia

23

Myotonic Dystrophy, what is the biggest concern?

Heart. Arrhythmias get worse. Risk of sudden death

24

What happens to the eyes in Myotonic Dystrophy

Cataracts before 55

25

Which transmission is worse, paternal or maternal

Maternal, often increased repeats over that of mom

26

What happens to scapula in FSHD

Lateral
Superior
Forward

27

Inheritance of Emery-Dreifuss Muscular Dystrophy

X-linged recessive progressive dystrophic myopathy due to Emerin

28

What is the 10-meter walk/run test and why important

12 seconds or longer to ambulate 10 meters means losing ambulation within a year

29

Ataxia telangiectasia

Autosomal recessive, 0-10, ataxia, dysarthria, ocular telangiectasis, immune deficiency, risk of cancer

30

MNGIE (mitochondrial disease)

PEO
Severe gi dysmotilitiy
cachexia
peripheral neuropathy
diffuse bleukoencephalopathy