Study your flashcards anywhere!

Download the official Cram app for free >

  • Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

How to study your flashcards.

Right/Left arrow keys: Navigate between flashcards.right arrow keyleft arrow key

Up/Down arrow keys: Flip the card between the front and back.down keyup key

H key: Show hint (3rd side).h key

A key: Read text to speech.a key

image

Play button

image

Play button

image

Progress

1/50

Click to flip

50 Cards in this Set

  • Front
  • Back

Which gene is now considered as the most common cause of congenital myopathy?

RYR1

describe the tissue?
diagnosis?
Inheritance modes:

describe the tissue?


diagnosis?


Inheritance modes:



Muscle in H&E stain. couple of cells with central nucleus.


Centronuclear myopathy


X-linked=myotubulin mutations (MTM1)


AD: Dynamin (DNM2)


AR: Amphiphysin (BIN1)




describe?
distinguish which particles?

describe?


distinguish which particles?

Gommori-trichome stain.


Best illustration of connective tissue


Visualization of Nemaline Rods

describe? 
diagnosis?
stain?

describe?


diagnosis?


stain?

Group atrophy, large muscle fibers are hypertrophied. Only one type (I) of muscle fibers. 
SMA
Lt - VvG stain, Rt. H&E stain

Group atrophy, large muscle fibers are hypertrophied. Only one type (I) of muscle fibers.


SMA


Lt - VvG stain, Rt. H&E stain

describe
diagnosis

describe


diagnosis



Duchenne muscular dystrophy.


H&E stain



which stain? 
Properties of the stain?
pahological findings?
diagnosis?

which stain?


Properties of the stain?


pahological findings?


diagnosis?

NADH stain - Nicotinamide adenine dinucleotide tetrazolium reductase (NADH) stain


Differentiate type I from type II fibers because type I fibers are more aerobic users (more NADH).


The holes in the muscle cell is the "core" area devoted from mitochondria. Only stains that reflect the oxidative state illustrate the cores

diagnosis?
features?

diagnosis?


features?

Central core disease


Gene: 90% due to AD de-novo mutations in RYR1


Pt. are at risk for malignant hyperthermia (like all cong. myopathies)

Stain?
diagnosis?
describe?

Stain?


diagnosis?


describe?

ATP stain in 4.3 pH. Uses to differentiate fiber types and blood vessels. lower pH differentiate better immature fibers


Multi-mini core disease, the fibers looks like moth-eaten

SEPN1 - which disease it causes?

AR multimini core


cong. muscular distrophy: rigid spine, early scoliosis and respiratory impairment



describe?
diagnosis?
clinical features?

describe?


diagnosis?


clinical features?

Rods in Nemaline myopathy, Gommori trichome stain.


Progressive weakness involving face, neck and limbs. delay in attaining motor milestones.

What is the prognosis of the most common types of Menaline myopathy?

Typical congenital type is the most common form. Manifests w weakness and feeding problems but no respiratory compermize. Pt. walks independently but late, might become wheelchair bounded as teenagers

Muscular dystrophy: severe v/s mild disease

Severe: Duchenne; Sarcoglycanopathy (LGMD 2C, 2D, 2E, 2F); LGMD 2A (Some patients)


Mild: Becker; LGMD 1G, 2A, 2B, 2G

DD for external nuclear ophtalmoplegia w/w.o ptosis in neuronuscular diseases:

Neuromuscular junction:Myasthenia Gravis. Botulism


Muscle: Thyroid


Mitochondrial: Kearns-Sayre


Progressive External Ophthalmoplegia


MNGIE


Congenital Myopathy: Centronuclear Myopathy: InfantileMulticoreHereditary myopathiesOculopharyngeal Muscular DystrophyOculopharyngodistal myopathyInclusion body myopathy with joint contractures & ophthalmoplegiaEarly-onset myopathy with external ophthalmoplegiaCongenital & hereditary ophthalmoplegias

The most common MD
describe the pathological findings

The most common MD


describe the pathological findings

Duchenne MD


1. loss of variability of fibers


2. necrosis


3. fibrosis


4. fatty infiltrate

Symptomathic carriers in Duchenne?

Only 10%' but can be more if checking various muscles. Symptomatic carrier has high levels of CPK and typical biopsy.


5- 48% of them have silent cardiomyopathy

Atypical presentation of Baker?

Mild weakness, hypertrophy of calves'


myalgia, muscle cramps and even myoglobinuria.


Dilated CMP - exist

match one disease to each pattern

match one disease to each pattern

1. Duchenne/Baker MD with calves HT


2. Distal MD (pelvic girdle is not affected) - Emery Dreifuss


3. Congenital MD - walker-warburg


4. LMGD - calpainopathy


5. Fascio-scapulo humeral disease (bulbar, scapula stabilizers, dorsi-flexion of foot)


6. oculo-pharyngeal MD- age at onset~50y

where Lamin a/c is located?
what is the function of dysferlin?
what is the function of Calpain 3?

where Lamin a/c is located?


what is the function of dysferlin?


what is the function of Calpain 3?

1. Nucleus membrane


2. Keeping the sarcolemma's integrity


3. control and modulate apoptosis pathway

disease?
genetic?
why female members in the pt. family should be assessed?

disease?


genetic?


why female members in the pt. family should be assessed?

Emery Dreifuss


95% x-linked due to mutation in Emerin


female carriers suffer from cardiomyopathy or arrhythmia

The triad of symptoms in Emery Dreifuss?

1. Contructures (before weakness)


2. Humero-peroneal weakness (mild)


3. Cardiopmypathy and arrhythmia

Sarcoglycanopahy with preserved ambulation is?


Sarcoglycanopathy with mild SNHL?

1. Alpha sarcogl. (the most common)


2. Gamma sarcog. (severe lordosis)

Identify the weak kids..
All had recurrent  cellulitis as infants, neutropenia and motor developmental delay. 
CPK levels were normal. 

Identify the weak kids..


All had recurrent cellulitis as infants, neutropenia and motor developmental delay.


CPK levels were normal.

Barth's syndrome.

In which MD the weakness is a-symetric?


In which MD pt. sleep with open eyes?

1. Fascio-scapulo-humoral


2. Fascio-scapulo-humoral and oculo-pharyngeal



myoglobulinuria - what are the features differentiate between glycolytic defects v/s fatty acid oxidation defect?

Glycolytic: triggered by exercise: lifting , climbing stairs.


Age of onset in the 2nd decay in previously healthy children


CPK is elevated between attacks


F.A: triggered by infections, younger children


medical hx. positive for developmental delay


CPK normal between attacks


Glycogen storage disease VIII:


enzyme


describe the features of the muscular disease

Phosphorylase kinase B


X-linked exercise intolerance starts in childhood, develop cramps, weakness and myoglobulinuria

Glycogen storage disease which involves alpha motor neurons, the tongue is huge with faciculations?
Acid maltase deficiency
describe;
which stain is helpful in identifying the material in the cells?

describe;


which stain is helpful in identifying the material in the cells?

Acid maltase deficiency; in all 3 diseases the biopsy shows vacuolar myopathy, most prominently stained in PAS

You are called to NICU for a 4 hours baby, born at term following a pregnancy positive for polyhydroamnion and decreased fetal movements.


Apgar 8,9. Mother suffers from hypothyroidism.


Currently: hypotonic, requires nasal c-PAP to keep oxygen saturations, droopy eyes and weak sucking.


suggest DD and work/up



central: HIE / cerebral insult - no


CNS malformation - post. fossa


chromosomal: prader willi, down syn, angelman


infection


Peripheral: alpha motor neuron - not typical with facial involvement


neuropathy: hereditary motor neuropathies


myasthenia- transient or congenital


congenital muscular dystrophy


congenital myopathies

newborn with hypotonia, poor feeding, joint laxity and bilateral pes-cavus. from the congenital muscular dystrophies- which group is probable?
defect in collagen VI
In which congenital muscular dystrophy the heart is involved and can be the presenting symptom?
LMNA (laminin a/c) deficiency (also named Merosin def.): pt. can presents with arrhythmia and dilated CMP
In which congenital muscular dystrophy the CPK level is usually normal?

SEPN1 related MD


Collagen VI

nocturnal respiratory failure is characteristic in children with which congenital mypopathy ?

Ulrich CMD (Collagen VI)


Merosin deficiency (MCT1A)


SEPN1 (rigid spine)

born with hypotonia and muscle weakness, 
knee and elbows contractures developed by 2-4 years of age, f/u for dilated CMP. 
normal intelligence

born with hypotonia and muscle weakness,


knee and elbows contractures developed by 2-4 years of age, f/u for dilated CMP.


normal intelligence

Merosin deficient CMD - may develop seizures,


might need respiratory support by 8-15 years


on MRI - T2 htperintensity around the ventricles

hypotonia and weakness at birth, never walked. scolioisis started by 3 y. 
rash on extensor areas 
Normal MRI

hypotonia and weakness at birth, never walked. scolioisis started by 3 y.


rash on extensor areas


Normal MRI

Ullrich CMD

I was born in Georgia in 1965. When I started elementary school, my parents and others noticed that I was walking on my toes and had very limited strength and stamina. My brother who is 2 years younger also showed the same signs.


Normal intelligence, playing piano.


Had X2 elongations of heel cord

Bethlehem CMD

True/false


1. One can differentiate CMD from congenital myopathy according to clinical features at birth


2. Children with Ullrich CMD develop contractures by age 1-2 yO


3. Hypotonia and poor feeding which requires support in the first weeks of life is typical in central core myopathy


4. Facial weakness in cong. myopathies involves mainly eyes and eye-lids in cong. myopathies


5. Extra-ocular muscles involvement is typical in centro-nuclear myopahth


6. Cognitive impairment is a common finding in Nemaline myopathy



1. false, either through f/u (cong. myopathies remain stable)


2. True, and early scoliosis


3. false - typical in Nemaline


4. fales- lower part of face


5. true


6. False- in disproportionate muscle fibers

CPK in cong. myopathies is X5 times elevated
False- normal or slightly elevated
List the common genes in Nemaline myopathy

50%: Nebulin


25% actin A1

True/false re. Nemaline myopathy


1. Orthopedic complications from birth are typical in all cong. myopathies


2. All proteins involve in Nemaline myopathy are related to the thin filaments in the sarcomere


3. Extra ocular muscles and ptosis are the hall mark of facial involvement in Nemaline


4. Morbidity in the 2nd decade is related to orthopedic issues and respiratory problems


5. In all types, life expectancy is up to 2-3 decade

1. False- typical to Nemaline


2. True


3. False- usually sparing of the eye area, but pharyngeal and facial muscles are affected


4. True


5. false- in the earliest and congenital forms life expectancy is in months.

exercise induced myalgia and cramps is typical to which myopathy?
Central core (RYR1 related)

Male newborn with bilateral hip dislocation, hypotonia, bilateral ptosis and respiratory difficulties. Muscle biopsy shows type 1 predominance with rows of internal nuclei.


suggested diagnosis?


DD?

Myotonic dystrophy 1 and Centro-nuclear myopathy share same clinical and histological features.
maternal complications in beta-oxidation defects
Mothers of babies w LCHAD/Trifunctional are prone to HELLP or fatty liver during the pregnancy
In which carnitine transporter defect cardiomyopathy is the main feature?
OCNT2

Multiple acyl-CoA dehydrogenase = MADD:


1. other name?


2. biochemical defect?


3. clinical subtypes?

Glutaric aciduria type II


Defect in electron-transfer flavoproteins (the carriers of electrons into the ox-phos system)


Clinical:


1. Neonatal presentation of hypoglycemia (usually prematures) w various cong. defects


2. Neonatal presentation w/o cong. defects


3. late onset mild disease

Neonatal severe MADD:


describe 4 clinical clues

1. Hypoglycemia in premature+ metabolic acidosis


2. sweat feet


3. large kidneys with cysts, facial dysmorphism


4. gastrochisis



female carriers of DMD - describe risks:

1. Mild muscle weakness


2. cardiomyopathy


3. calf hypertrophy


4. elevated CPK

Narcolepsy - describe 4 + criteria

1. Daytime sleepiness


2. Hypnagogic hallucinations


3. Sleep-onset paralysis


4. Fragmented night sleep


+ : cataplexy in 80% of Pt. (sudden loss of skeletal muscle tone in response to emotional triggers like laughter, fright, or surprise

DD for excessive daytime sleepness

1. narcolepsy


2. Myotonic dystrophy


3. Prader willi

Klein-Levin syndrome: describe 4 clinical features

1. attacks of excessive sleep: 18 hours/day lasting 1-2 weeks, accompanied by :


2. compulsive hyperphagia


3. hypersexsual behaviour


4. intervals of 2–4 months of normal alertness and behavior

DD for len's dislocation

Homocystenuria


Marphan


MoCo def.


Sulphite oxidase