Term
| What does a myopathy present with? |
|
Definition
| proximal/generalized weakness |
|
|
Term
| How does a neurogenic muscle disease present? |
|
Definition
|
|
Term
| How are the muscle fibers shaped in a myopathy? |
|
Definition
|
|
Term
| How are the muscle fibers shaped in a neurogenic muscle disease? |
|
Definition
|
|
Term
| Where are the nuclei of the muscle cells in lLmb Girdle and myotonic dystrophy? |
|
Definition
|
|
Term
| What stain do you not want to use when trying to determine fiber type for muscle atrophy and why? |
|
Definition
| do not use SDH b/c there will be an increase in mitochondria in both fibers and they both will be dark |
|
|
Term
| What is the best stain for typing fiber? |
|
Definition
|
|
Term
| When do muscular dystrophies usually present in a patient? |
|
Definition
| in childhood, not at birth |
|
|
Term
| What is true of the fibers at birth and later on in a muscular dystrophy disease? |
|
Definition
| they are fine at birth and get worse |
|
|
Term
| What is true of the muscle fibers in a congenital myopathy? |
|
Definition
| they are worse at birth and get better |
|
|
Term
| Is muscle dystrophy progressive or not? |
|
Definition
|
|
Term
| What is the most common muscular dystrophy? |
|
Definition
|
|
Term
What chromosome are most of the Duchenne Muscular Dystrophy mutation located on?
What percentage of time will it be there? |
|
Definition
xp21.2
60-70% of the time |
|
|
Term
| What protein is deficient as a result of the Duchenne mutation? |
|
Definition
|
|
Term
| What is the inheritance of Duchenne? |
|
Definition
|
|
Term
| What does dystrophin do for a muscle cell? |
|
Definition
| it stabalizes the membrane |
|
|
Term
| What manuver is often seen in both Duchenne and Limb Girdle? |
|
Definition
|
|
Term
| What happens to the calfs of a Duchenne patient? |
|
Definition
|
|
Term
| What happens to the muscle in Duchenne muscular dystrophy? |
|
Definition
| necrosis followed by macrophage invasion |
|
|
Term
| What is the typical lesion seen in Duchenne muscular dystrophy as a result of the holes made by the missing dystrophin followed by calcium influx? |
|
Definition
|
|
Term
| How often is pseudohypertrophy seen in Limb Girdle patients? |
|
Definition
|
|
Term
| What is the inheritance of Limb Girdle? |
|
Definition
|
|
Term
| What is the shape and location of the nuclei in the muscle cells of Limb Girdle ? |
|
Definition
| round and internal nuclei |
|
|
Term
What occurs to the muscle fibers as they enlarge in limb girdle?
What name do they give to them based on how they appear? |
|
Definition
the split (splitting hypertrophy)
moth eaten |
|
|
Term
| Which disease has moth eaten muscle fibers due to splitting hypertrophy? |
|
Definition
| Limb Girdle Muscular Dystrophy |
|
|
Term
| When is the onset of congenital myopathies? |
|
Definition
|
|
Term
| What is the inheritance of both of the congenital myopathies? |
|
Definition
|
|
Term
| What are the two congenital myopathies studied? |
|
Definition
|
|
Term
| What is the defected protein in central core disease? |
|
Definition
|
|
Term
| What disease can present with malignant hyperthermia? |
|
Definition
|
|
Term
| In the central core of the muscle fibers in central core disease what is not occuring? |
|
Definition
|
|
Term
| Why do patients with central core disease have progression to get better? |
|
Definition
| b/c the central core doesn't get larger as the muscle gets larger with age; therefore, there is less proportion of central core |
|
|
Term
| What is often true of the infant in central core disease when you hold them by the stomach? |
|
Definition
|
|
Term
| What is present in the muscle cells in nermline myopathy? |
|
Definition
|
|
Term
| What do the rods look like in the muscle cells of nermline myopathy? |
|
Definition
|
|
Term
| What is the characteritic finding in Nermline Myopathy in relation to the palate, face, eyes? |
|
Definition
high arched palate
facial dysmorphism (long face, prognathism)
ptosis |
|
|
Term
| What two proteins are defected in Nermline Myopathy? |
|
Definition
alpha tropomysoin (NEM1)
nebulin (NEM2)
|
|
|
Term
| What is true of the amplitude and duration in a myopathic EMG? |
|
Definition
| small amplitude and duration due to death of muscle fibers so decreased density and number |
|
|
Term
What is the amplitude and duration of a neurogenic EMG?
Hint: 2 possibilities |
|
Definition
before reinnervation: amplitude high, duration the same because muscle cells only become smaller
after reinnervation: amplitude high, duration longer because you have type grouped therefore increased the number of fibers |
|
|
Term
| What is the inheritence pattern of myotonic dystrophy? |
|
Definition
|
|
Term
| What is the pentrance of myotonic dystrophy? |
|
Definition
|
|
Term
| What are the three characteristic findings of myotonic dystrophy on a biopsy? |
|
Definition
internal nuclei
type one atrophy
ring fibers |
|
|
Term
| What two diseases present with internal nuclei? |
|
Definition
| limb girdle and myotonic dystrophy |
|
|
Term
| What are the three most common systemic manifestations of myotonic dystrophy? |
|
Definition
cardiac problems
male sterility
dysphagia |
|
|
Term
| What do most patients die of from myotonic dystrophy? (similar to DMD) |
|
Definition
|
|
Term
| What are fiber rings and what disease presents with them? |
|
Definition
they are perpindicular myofibrils in a transverse section of a fiber
seen in myotonic dystrophy |
|
|
Term
What is gene mutation in myotonic dystrophy?
What is the mechanism of the mutation in the gene? |
|
Definition
mutation in DMPK gene for myotonic protein kinase
the mechanisim is a trinucleotide repeat |
|
|
Term
Where is the atrophy in myotonic dystrophy (proximal or distal)?
Why is this unique? |
|
Definition
it is distal
one would think this was a neurogenic disorder, but this is not the case despite the location of the atrophy |
|
|
Term
| What are the two inflammatory myopathies studied in the course? |
|
Definition
Inclusion body myositis
Polymyositis
|
|
|
Term
| Which myositis myopathy presents with unilateral weakness? |
|
Definition
|
|
Term
| What type of muscle weakness is present in polymyositis? |
|
Definition
|
|
Term
| What cell mediates polymyositis? |
|
Definition
|
|
Term
| What inflammatory markers are positive in polymyositis? |
|
Definition
|
|
Term
WHich inflammatory myopathy can be treated with steriods?
Which is resistant to them? |
|
Definition
polymyostitis
inclusion body myostitis is resitant to steriods |
|
|
Term
| Which two muscle diseases present with hypertrophy and splitting of the fibers? |
|
Definition
limb girdle
inclusion body myostitis |
|
|
Term
What is the characteristic vacule in inclusion body myositis?
And what is true about this vacule?
How does it stain? |
|
Definition
rimmed vacule
it is autophagocytic
congo red b/c of amyloid |
|
|
Term
| Which muscle disease will stain with congo red due to amyloid deposits? |
|
Definition
|
|
Term
| Which of the inflammatory myopathies typically presents earlier than the other? |
|
Definition
|
|
Term
| What is the inheritence of acid maltase deficiency? |
|
Definition
|
|
Term
What is the inheritience of the following dystrophies?
DMD
Myotonic
BMD
Limb Girdle |
|
Definition
DMD: x-linked
BMD: x-linked
Myotonic: AD
Limb Girdle: AR |
|
|
Term
| What enzyme is deficient in acid maltase deficieny? |
|
Definition
| lysosomal alpha glycosidic |
|
|
Term
| What is the name of the infantile type of Acid Maltase Deficiency? |
|
Definition
|
|
Term
What disease presents with a large tongue and hepatomegaly?
What causes the large liver? |
|
Definition
Acid Maltase Deficincy (Pompi)
hepatomegaly caused by increased liver glycogen |
|
|
Term
What does CPT deficiency present with?
What preceeds its episodes? |
|
Definition
myoglobinuria
myalgia
exercise induced episodes |
|
|
Term
| What is Kearns Sayre Syndrome? |
|
Definition
| A disease in which the mitochondria is abnormal |
|
|
Term
| What are the three findings of the mitochondria in Kearns-Sayre syndrome? |
|
Definition
abnormal mitochondria
too many mitochondria
inclusions |
|
|
Term
| What disease presents with ragged red fibers in the mitochondria and ptosis? |
|
Definition
|
|
Term
| What enzyme is deficient in CPT deficiency? |
|
Definition
|
|
Term
| What four diseases studied present with ptosis? |
|
Definition
nermline
myotonic dystrophy
Myesthenia Gravis
Kearns-Sayre |
|
|
Term
| What are four reasons for type two atrophy? |
|
Definition
aging
misuse
Myesthenia Gravis
steriods |
|
|
