Musculoskeletal Muscle Diseases

Front 1

Any and all disease of muscle or any type of damage to muscle?

Back 1

Myopathy

Front 2

What fails in muscle disease?

Back 2

Phosphate (energy transfer) Fails

Front 3

What is the immediate source of energy for muscle contraction?

Back 3

Hydrolysis of ATP

Front 4

How is muscle ATP replenished?

Back 4

Anaerobic Glycolysis
Oxidative Phosphorylation

Front 5

What enzyme moves phosphate from creatine phosphate to ADP is present in muscle?

Back 5

Creatine Kinase

Front 6

What is the biochemical marker leaked out of the sarcolemma for Myonecrosis (death of muscle fibers)?

Back 6

Serum Creatine Kinase

Front 7

What are the two most common reactions to injury for muscle?

Back 7

Atrophy & Myonecrosis

Front 8

What disease affecting the lower motor neuron can cause myofiber atrophy?

Back 8

Denervation Atrophy

Front 9

What is the most common motor neuron diseases of denervation atrophy in Adults?

Back 9

Amyotrophic Lateral Sclerosis

Front 10

What is the most common motor neuron diseases of denervation atrophy in Children?

Back 10

Spinal Muscular Atrophy

Front 11

Disuse of muscle causes atrophy of what type of fibers?

Back 11

Type 2 fibers

Front 12

What causes denervation atrophy?

Back 12

Peripheral neuropathies or motor neuron disease

Front 13

What disease is characterized by neuronal muscle atrophy and hypereflexia due to loss of lower motor neurons in the anterior horns of the spinal cord and upper motor neurons that project in corticospinal tracts, respectively?

Back 13

Amyotrophic Lateral Sclerosis (ALS, Lou Gehrig Disease)

Front 14

What disease has early symptoms of assymmetric weakness of the hands, manifested as dropping objects and difficulty in performing fine motor tasks, and cramping and spasticity of the arms and legs?

Back 14

ALS

Front 15

In ALS what are the involuntary contractions of individual motor units referred to as?

Back 15

Fasciculations

Front 16

In ALS what is the pattern of rapid early degeneration of the lower brainstem cranial motor nuclei referred to as?

Back 16

Bulbar ALS*

Usually affects the tongue early on. Also, have trouble chewing food, bite their tongue often, etc.

Front 17

What is the most common form of spinal muscular atrophy has its onset at birth or within the first 4 months of life and usually leads to death within the first 3 years of life?

Back 17

Werdnig-Hoffmann Disease (a SMA)

Front 18

In Spinal Muscular Atrophy which form is found in later childhood (after 2 years of age) and often survive into adulthood, SMA2 or SMA3?

Back 18

SMA3

(SMA2 Presents between 3-15 months of age and may live >4 years)

Front 19

What is an Inflammation of muscle, especially a voluntary muscle, characterized by pain tenderness, and sometimes spasms in the affected area?

Back 19

Myositis

Front 20

What is Abnormally long muscular contractions; slow relaxation of a muscle after a contraction tonicity.

Back 20

Myotonia

Front 21

What is Muscle tone the elastic tension of living muscles, arteries, etc. that facilitate response to stimuli?

Back 21

Tonus

Front 22

What is a general term for abnormal tonicity of muscle, which may be characterized by lack of tone or prolonged, repetitive muscle contractions causing twisting or jerking movements of the body or body part?

Back 22

Dystonia

Front 23

What is a myotonia (long muscle contraction) of the extremities only?

Back 23

Acromyotonia (causes spastic deformity of the hand or foot)

{acro means tip or end of something}

Front 24

What is a mild, rare, congenital form of myotonia (long muscle contraction) characterized by muscle stiffness?

Back 24

Thompson's Disease (Myotonia Congenita)

Front 25

What is a clonic spasm of a muscle or muscle group cramp, muscle spasm, spasm - a painful and involuntary muscular contraction?

Back 25

Myoclonus

Front 26

What type of cramp (myotonus) is:
Common
Intermittent w/variable severity during exercise
Myoglobinuria usually Absent
Rhabdomyolysis usually Absent
Weak familial tendency

Back 26

Exercise-Associated Muscle Cramps

Front 27

What type of cramp (myoclonus) is:
Rare
Recurrent and severe during exercise
Myoglobinuria Common (sign of degeneration of muscle fibers)
Rhabdomyolysis usually present (lysis of skeletal muscle)
Often electrically silent (rigor)
Strong Familial Tendency

Back 27

Cramps Due to Metabolic Disorders

Front 28

What are a group of familial diseases characterized clinically by myotonia, relapsing episodes of hypotonic paralysis (induced by exercise, cold, or hi carb meal)?

Back 28

Ion Channel Myopathies

Front 29

What type of Ion Channel Myopathy is a:
* Ca++ channel defect triggered by halogenated inhalation anesthesia and succinylcholine
* Body Temp goes up during anesthesia
* Due to problems with Ryanodine receptor
* Leads to Ca++ influx into muscles
* Muscles degrade due to hypermetabolism
* Would never know there was a problem if they never went under anesthesia

Back 29

Malignant Hyperthermia

Front 30

What is the Key problem that triggers Malignant Hyperthermia?

Back 30

Ryanodine Receptor Problems

Front 31

What are Genetically Transmitted diseases characterized by degeneration and loss of myofibers and clinically by progressive weakness and elevated Creatine Kinase?

Back 31

Muscular Dystrophies

Front 32

What is the most common muscular dystrophy in Children?

Back 32

Duchenne Muscular Dystrophy

Front 33

What are the most common dystrophies in adults?

Back 33

Myotonic Dystrophy
Limb Girdle Dystrophy

Front 34

What are the proteins located Just Inside the sarcolemma that bind myofibers to matrix and stabilize the sarcolemma during contraction and relaxation?

Back 34

Dystrophin

Front 35

What are the proteins embedded in the sarcolemma that bind myofibers to matrix and stabilize the sarcolemma during contraction and relaxation?

Back 35

Sarcoglycans

Front 36

What are the proteins located in the Basement Membrane Outside the sarcolemma that bind myofibers to matrix and stabilize the sarcolemma during contraction and relaxation?

Back 36

Alpha-Dystroglycan, merosin

Front 37

What happens in muscular dystrophy if the fibroproteins that bind myofibers to matrix are broken down?

Back 37

Stress Fractures of the Sarcolemma occur during contraction. Influx of Ca++ activate proteolytic enzymes leading to Autodigestion of sarcoplasm (myonecrosis)

Front 38

**What muscular dystrophy is caused by defects in the dystrophin proteins located just inside the sarcolemma?

Back 38

Duchenne Muscular Dystrophy

Front 39

What muscular dystrophy is caused by defects in the sarcoglycans proteins embedded in the sarcolemma?

Back 39

Limb Girdle Dystrophy

Front 40

What muscular dystrophy is caused by defects in the basement membrane proteins (2laminin)?

Back 40

Congenital Muscular Dystrophy

Front 41

Phenotypic classification is being replaced by genetic-molecular classification, so what would Duchenne MD & Limb Girdle MD have as nomenclature?

Back 41

Dystrophinopathy
Sarcoglycanopathy

Front 42

What are the symptoms of Muscular Dystrophy?

Back 42

See Picture

Front 43

What cause severe, sometimes fatal, hypotonia and weakness at birth and are rare diseases?

Back 43

Congenital Myopathies

Front 44

What is the best-characterized Congenital Myopathy?

Back 44

**Nemaline ("rod body") Myopathy

They are easily identified, but not well understood how they are related to the dysfunction of the muscle.

Front 45

Where is the weakness predominantly in DM1?

Back 45

DM1 (myotonic dystrophy) is weakest in the Distal

Front 46

Where is the weakness predominantly in DM2?

Back 46

DM2 (myotonic dystrophy) is weakest in the Proximal

Front 47

What type of myotonic dystrophy is:
§ is caused by a CGT trinucleotide expansion in the DMPK (dystrophia myotonica protein kinase) gene on chromosome 19q13. In DM1, this gene is expanded over 37 CGT repeats.
§ The more repeats, the more severe the dystrophy and the earlier the onset of symptoms.
* the onset of the disease is earlier with each successive generation (anticipation)

Back 47

DM1

Front 48

What type of myotonic dystrophy:
§ is caused by a CCTG expansion of the ZNF9 (Zink Finger protein 9) gene on 3q21.
* Neither mutation affects the coding portion of these proteins and it is not know how these mutations affect muscle and other organs.

Back 48

DM2

Front 49

What are the 3 subgroups of Inflammatory Myopathies?

Back 49

1) Infectious IM
2) Noninfectious IM
3) Systemic inflammatory diseases that involve muscle along with other organs

Front 50

What type of myopathies are characterized by myonecrosis and mononuclear inflammatory infiltrates and clinically by weakness and soreness of muscles and elevated Creatine Kinase and erythrocytes sedimentation rate?

Back 50

Inflammatory myopathies

Front 51

What are the main Non-Infectious Inflammatory Myopathies (autoimmune in origin)?

Back 51

Polymyositis
Dermatomyositis
(inclusion body myositis)

Front 52

What inflammatory myopathy:

* affects predominantly adults who present with subacute or chronic proximal weakness (without a rash) and elevated CK.
§ Muscle biopsy shows endomysial mononuclear cells and myonecrosis.
§ is cell-mediated autoimmune in which cytotoxic T-cells and macrophages invade and destroy myofibers.

Back 52

Polymyositis

Front 53

What inflammatory myopathy:

§ affects children and adults.
§ It causes a purple (heliotrope) discoloration of the upper eyelids, edema around the eyes and mouth, skin rash on the face and over extensor surfaces of the extremities, muscle pain, weakness and stiffness of muscles.
§ Contractures, subcutaneous calcification, intestinal ulceration, and other extramuscular manifestations are frequent in children

Back 53

Dermatomyositis

Front 54

What type of Toxic Myopathies presents as atrophy, myonecrosis, regeneration and interstitial lymphocytosis?

Back 54

Thyrotoxic

Front 55

What type of Toxic Myopathies presents as rhabdomyolysis, myoglobulinemia and renal failure?

Back 55

Binge Drinking

Front 56

What type of Toxic Myopathies presents as steroids, chloroquine, statins?

Back 56

Drug-Induced

Front 57

What are the treatments for Myasthenia Gravis?

Back 57

AntiCholinesterase drugs, Corticosteroids, and Thymectomy

Front 58

In Myasthenia Gravis, what is usually the consequential method of death?

Back 58

Death due to Respiratory Problems

Front 59

Improvement of strength following administration of edrophonium (Tensilon test) or Neostigmine are diagnostic for?

Back 59

Myasthenia Gravis

Front 60

What disease is caused by circulating antibodies (IgG) binding to acetylcholine receptors?

Back 60

Myasthenia Gravis

Front 61

What are two benign neoplasms of muscle?

Back 61

Rhabdomyoma
Leimyoma

Front 62

What are two malignant neoplasms of muscle?

Back 62

Rhabdosarcoma
Leiomyosarcoma

Front 63

What is a very rare benign tumor of skeletal muscle that can be found in the heart?

Back 63

Rhabdomyoma

Front 64

What is the most common neoplasm in women due to the uterus?

Back 64

Leiomyoma (smooth muscle benign neoplasm)

I think Leiomyoma as a hula dancer (linking the female factor)

Front 65

What is the most common soft tissue sarcoma of children/adolescence?

Back 65

Rhabdomyosarcoma

Front 66

What is a rare malignant tumor of smooth muscle resistant to radio/chemotherapy except for cKit+ (CD117) GIST that is responsive to Gleevec?

Back 66

Leiomyosarcoma