Musculoskeletal - Pathoma Flashcards

(139 cards)

1
Q

The driving etiology for achondroplasia is an ________expression of ________.

A

The driving etiology for achondroplasia is an overexpression of FGFR3.

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2
Q

True/False.

Most cases of achrondoplasia are sporadic and related to advanced paternal age.

A

True.

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3
Q

Identify which (if any) of the following are affected by achrondroplasia:

Mental function

Lifespan

Fertility

A

No effects on mental function, lifespan, or fertility

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4
Q

What are the three common features of osteogenesis imperfecta?

A

Multiple fractures (absent bruising can distinguish from child abuse)

Blue sclera (increased exposure of choroidal veins)

Hearing loss (easy fracture of middle ear bones)

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5
Q

Osteo_________ is a disorder of bone mineralization.

Osteo_________ is a disorder of bone mass.

Osteo_________ is a disorder of bone resorption.

A

Osteomalacia is a disorder of bone mineralization.

Osteoporosis is a disorder of bone mass.

Osteopetrosis is a disorder of bone resorption.

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6
Q

Osteopetrosis is a(n) _____________ (sporadic/inherited) defect of bone _____________ (formation/mineralization/resorption).

A

Osteopetrosis is an inherited defect of bone resorption.

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7
Q

What is the main result of the lack of bone resorption seen in osteopetrosis?

A

Abnormally thick, heavy bone which fractures easily

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8
Q

Osteopetrosis occurs due to poor ____________ function.

A

Osteopetrosis occurs due to poor osteoclast function.

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9
Q

Osteopetrosis often occurs due to a mutation in ________________, leading to a loss of the ________ microenvironment needed for bone resorption.

A

Osteopetrosis often occurs due to a mutation in carbonic anhydrase II, leading to a loss of the acidic microenvironment needed for bone resorption.

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10
Q

Name some of the major presenting S/Sy of osteopetrosis:

F______________

A______________, T______________, L______________

V______________ and H______________ impairment

H______________

R________________________

A

Name some of the major presenting S/Sy of osteopetrosis:

Fractures**

Anemia, **Thrombocytopenia, Leukocytopenia**

Visual** and Hearing** impairment

Hydrocephalus

Renal tubular acidosis(type 2)

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11
Q

Why is osteopetrosis associated with hydrocephalus?

A

Narrowing of the foramen magnum

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12
Q

Why is osteopetrosis associated with type 2 RTA?

A

Lack of carbonic anhydrase

(leading to decreased tubular HCO3- reabsorption)

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13
Q

What is the treatment for osteopetrosis?

A

Bone marrow transplant

(osteoclasts derive from monocytes)

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14
Q

A defect in mineralization of osteoid in children is called ___________.

A defect in mineralization of osteoid in adults is called ___________.

A

A defect in mineralization of osteoid in children is called Rickets.

A defect in mineralization of osteoid in adults is called osteomalacia.

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15
Q

Osteoblasts normally produce ________, which is then mineralized with calcium and phosphate to form bone.

A

Osteoblasts normally produce osteoid, which is then mineralized with calcium and phosphate to form bone.

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16
Q

Osteomalacia/Rickets results due to a lack of ________.

A

Osteomalacia/Rickets results due to a lack of vitamin D.

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17
Q

Vitamin D deficiency can lead to osteo_________.

A

Vitamin D deficiency can lead to osteomalacia.

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18
Q

Rickets most commonly arises in children of what age?

A

< 1 year

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19
Q

What are some of the S/Sy of Rickets?

A

Pigeon-breast deformity (inward bend of the ribs + sternal protrusion)

Frontal bossing (osteoid deposition in skull)

Rachitic rosary (osteoid deposition at costochondral junction)

Genu varum (in ambulating children)

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20
Q

What are some of the clinical S/Sy of osteomalacia in relation to the bones?

A

Weak bones;

pathologic fractures

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21
Q

What are some of the laboratory S/Sy of osteomalacia?

A

Decreased: calcium, phosphate

increased PTH, alkaline phosphate

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22
Q

Peak bone mass is achieved at ____ years of age and is based on genetics (___________ receptor variants), diet, and exercise.

A

Peak bone mass is achieved at 30 years of age and is based on genetics (vitamin D receptor variants), diet, and exercise.

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23
Q

After peaking at 30 years of age, ____% is typically lost each year.

A

After peaking at 30 years of age, 1 % is typically lost each year.

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24
Q

How can bone density be measured?

A

DEXA scanning

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25
What are some of the laboratory S/Sy of osteoporosis?
**Normal**: Ca2+, PO43-, PTH, ALP
26
How can osteoporosis and osteomalacia be easily distinguished, despite similar presentation of weak bones and pathologic fractures?
**Lab values** (normal in osteoporosis; elevated PTH and ALP + decreased Ca2+ and PO43- in osteomalacia)
27
**True/False**. Osteoporosis treatment includes exercise, vitamin D, calcium, bisphosphonates, estrogen replacement, and glucocorticoids.
**False**. Osteoporosis treatment includes exercise, vitamin D, calcium, and bisphosphonates. Estrogen replacement is **_not_** **_currently recommend**_ and glucocorticoids _**are contraindicated_** *(as they worsen osteoporosis).*
28
How do bisphosphonates treat osteoporosis?
By inducing **osteoclast apoptosis** (by binding hydroxyapatite at the pyrophosphate-binding site)
29
Among the following, identify which produce an elevation in ALP: ## Footnote **Achondroplasia** **Osteoporosis** **Osteomalacia** **Osteopetrosis** **Osteomyelitis** **Paget disease of the bone** **Osteogenesis imperfecta**
**Osteomalacia** (+ elevated PTH) **Paget disease of the bone**
30
What is the underlying cause of Paget disease of the bone?
Imbalance between osteoblast and osteoclast function ## Footnote *(though we don't know why - may be a viral cause)*
31
What is the most common cause of an isolated elevation of ALP in patients over 40?
Paget disease of the bone
32
**True/False**. Paget disease of the bone is a systemic process involving multiple bones (sometimes widespread skeletal involvement).
**False**. Paget disease of the bone is a ***localized*** process involving ***one or more*** bones.
33
How is Paget disease of the bone treated?
Calcitonin + Bisphosphonates
34
What are the three distinct phases of Paget disease of the bone? (1) **O**\_\_\_\_\_\_\_\_\_\_\_\_ (2) **M**\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_ (3) **O**\_\_\_\_\_\_\_\_\_\_\_\_
What are the three distinct phases of Paget disease of the bone? (1) **O**_steoclastic_**** (2) **M_ixed osteoclastic-osteoblastic_** (3) **O**_steoblastic_****
35
The end result of Paget disease of the bone is \_\_\_\_\_\_\_, _______ bone that ________ easily.
The end result of Paget disease of the bone is **_thick_**, **_sclerotic_** bone that **_fractures_** easily.
36
Name some of the clinical features of Paget disease of the bone: **Bone** \_\_\_\_\_\_\_\_\_\_\_\_ **Increasing H**\_\_\_\_\_\_\_\_\_\_\_\_ **H**\_\_\_\_\_\_\_\_\_\_\_\_ loss **L**\_\_\_\_\_\_\_\_\_\_\_\_
Name some of the clinical features of Paget disease of the bone: **Bone _pain_** **Increasing H****_at size_** **H****_earing_** loss **L_ion-like facies_**
37
What is the lab finding of Paget disease of the bone?
Isolated ALP elevation
38
What does bone biopsy reveal in Paget disease of bone?
Mosaic pattern of lamellar bone
39
Name two major complications of Paget disease of the bone.
**High-output cardiac failure** (due to formation of AV shunts in bone) ## Footnote **Osteosarcoma**
40
Osteomyelitis most commonly occurs in _________ (age group), is _________ (general etiology), and results due to _________ spread.
Osteomyelitis most commonly occurs in **_children_**, is **_bacterial_**, and results due to **_hematogenous_** spread.
41
Transient bacteremia (often in \_\_\_\_\_\_\_\_\_) often seeds the \_\_\_\_\_\_physis. Open-wound bacteremia (often in \_\_\_\_\_\_\_\_\_) often seeds the \_\_\_\_\_\_physis.
Transient bacteremia (often in **_children_**) often seeds the **_meta_**physis. Open-wound bacteremia (often in **_adults_**) often seeds the **_epi_**physis.
42
Name the etiology associated with osteomyelitis in each of the following scenarios: ## Footnote ***Most common cause (90% of cases)*** ***Sexually active young adults*** ***Sickle cell disease*** ***Diabetes*** ***IVDUs*** ***Cat or dog bites*** ***Involving the vertebral column***
## Footnote * E. coli* * N. gonorrhoeae* * Salmonella spp.* * Pseudomonas spp.* * Pseudomonas spp.* * Pasturella multocida* * Mycobacterium tuberculosis*
43
How is the diagnosis of osteomyelitis made?
Blood culture
44
What are the clinical features of osteomyelitis?
**Bone** **pain** + **systemic signs of infection** (fever/leukocytosis) **lytic focus** surrounded by **sclerotic** **bone** (abcess/sequestrum surrounded by involucrum)
45
Avascular bone necrosis is typically ischemic necrosis of what?
Bone and bone marrow
46
What are the most common causes of avascular necrosis of bone?
Trauma and/or fracture
47
Besides trauma/fracture, name two other causes of avascular necrosis.
Sickle cell disease Caisson disease
48
Where do osteomas most commonly arise?
The **facial bones** (most commonly associated with Gardner syndrome)
49
What are osteoid osteomas?
**Benign osteoblast tumors** surrounded by a rim of **reactive bone**
50
What demographic is more commonly affected by osteoid osteomas?
Males \< 25 years of age
51
Where do osteoid osteomas typically arise?
**Cortex** of **long** bones
52
Osteoid osteomas present as bone _______ that resolves with \_\_\_\_\_\_\_.
Osteoid osteomas present as bone **_pain_** that resolves with **_aspirin_**.
53
How do osteoid osteomas present on imaging?
**Bony** **mass** (\< 2 cm) with a **lucent** **core** (osteoid)
54
What tumor is similar to an osteoid osteoma but is larger (\>2 cm), arises in the vertebrae (as opposed to the long bones), and does not respond to aspirin?
Osteoblastomas
55
What is the most common benign tumor of bone?
Osteochondroma
56
Osteochondromas are tumors of ________ with an overlying ________ cap.
Osteochondromas are tumors of **_bone_** with an overlying **_cartilage_** cap.
57
Osteochondromas arise from ________ projections of the \_\_\_\_\_physis and are continuous with the \_\_\_\_\_\_\_\_\_\_\_\_\_\_.
Osteochondromas arise from **_lateral_** projections of the **_meta_**physis and are continuous with the **_marrow space_**.
58
Osteosarcomas are malignant proliferations of \_\_\_\_\_\_\_\_\_\_\_.
Osteosarcomas are malignant proliferations of **_osteoblasts_**.
59
Osteosarcomas typically arise in what demographic?
**Teenagers** | (sometimes the elderly)
60
Osteosarcomas typically arise in what area(s) of the skeleton?
The **knee metaphyses** | (distal femur or proximal tibia)
61
Name some risk factors for osteosarcoma development.
Familial **RB** **Paget** disease of the bone **Radiation** exposure
62
How do osteosarcomas typically present?
Pathologic fracture *or* bone pain with swelling
63
What does imaging reveal in an osteosarcoma?
**Destructive** **mass** + '**sunburst**' **appearance** + **Codman** **triangle** (lifting of the periosteum)
64
Biospy of an osteosarcoma would reveal what?
**Osteoid**-**producing** **pleomorphic** cells
65
Giant cell tumors are comprised of what cell(s)?
**Multinucleated** **giant** cells + **stromal** cells
66
Giant cell tumors are __________ (benign/malignant) tumors of ________ (organ).
Giant cell tumors are **_malignant_** tumors of **_bone_**.
67
**True/False**. Giant cell tumors are locally aggressive
True.
68
Giant cell tumors typically arise in what demographic?
Young adults
69
How do giant cell tumors appear on X-ray?
**Soap-bubble** appearance
70
Where do giant cell tumors arise?
The **epiphysis** of **long** **bones** (especially around the knee - distal femur or proximal tibia)
71
Which bone malignancies often arise in the metaphyses of the distal femur or proximal tibia around the knee? Which bone malignancies often arise in the epiphyses of the distal femur or proximal tibia around the knee?
Osteosarcomas Giant cell tumors
72
Ewing sarcoma are ____________ (benign/malignant) proliferations of \_\_\_\_\_\_\_\_\_-differentiated _______________ cells.
Ewing sarcoma are **_malignant_** proliferations of **_poorly_**-differentiated **_neuroectodermal_** cells.
73
How do Ewing sarcomas appear on X-ray?
'Onion-skin' appearance
74
**True/False**. Ewing sarcomas typically arise in the diaphysis of long bones in male children.
True.
75
Ewing sarcomas are associated with a _______ translocation and can be confused with _______ or chronic osteomyelitis due to the presence of small, round, blue cells (which look similar to lymphocytes).
Ewing sarcomas are associated with a **_11:22_** translocation and can be confused with **_lymphoma_** or chronic osteomyelitis due to the presence of small, round, blue cells (which look similar to lymphocytes).
76
Ewing sarcomas often present with ____________ and ________ (are/are not) responsive to chemotherapy.
Ewing sarcomas often present with **_metastases_** and **_are_** responsive to chemotherapy.
77
Where do chondromas most commonly arise?
The **medulla** of **small** **bones** in the hands or feet
78
\_\_\_\_\_\_\_\_\_\_\_\_\_\_ are malignant cartilage-producing tumors that often arise in the medulla of the pelvis or central skeleton.
**_Chondrosarcomas_** are malignant cartilage-producing tumors that often arise in the medulla of the pelvis or central skeleton.
79
Chondrosarcomas are malignant cartilage-producing tumors that often arise in the _________ of the _________ or central skeleton.
Chondrosarcomas are malignant cartilage-producing tumors that often arise in the **_medulla_** of the **_pelvis_** or central skeleton.
80
What is the most common type of bone tumor?
Metastases
81
How do metastases to the bone typically present?
As osteo**lytic** **lesions** (prostatic metastases to bone classically appear as osteoblastic lesions)
82
The synovium lining joint capsules secretes a fluid rich in _____________ acid (in order to lubricate the joint and facilitate smooth motion).
The synovium lining joint capsules secretes a fluid rich in **_hyaluronic_** acid (in order to lubricate the joint and facilitate smooth motion).
83
What are the major risk factors for osteoarthritis?
**Age** (\> 60); obesity, trauma
84
Osteoarthritis is characterized by joint stiffness in the morning that ________ throughout the day.
Osteoarthritis is characterized by joint stiffness in the morning that **_worsens_** throughout the day.
85
In osteoarthritis, there is a burnishing/polishing of the subchondral bone. This is called \_\_\_\_\_\_\_\_\_\_\_\_.
In osteoarthritis, there is a burnishing/polishing of the subchondral bone. This is called **_eburnation_**.
86
Osteoarthritis osteophytes are classically found in which joints?
The **PIP** (Bouchard nodes) and **DIP** (Heberden nodes)
87
**True/False**. Rhematoid arthritis is strongly associated with HLA-B27.
**False**. Rhematoid arthritis is strongly associated with HLA-***DR4***.
88
**True/False**. Rheumatoid arthritis is associated with intra-articular pannus formation.
**True**. ## Footnote *Note: a pannus is a proliferation of granulation tissue.*
89
What term refers to fusion of a joint?
Ankylosis
90
Rheumatoid arthritis is characterized by joint pain in the morning that __________ throughout the day.
Rheumatoid arthritis is characterized by joint pain in the morning that **_improves_** throughout the day.
91
Which joint of the hands is typically affected in osteoarthritis but spared in rheumatoid arthritis?
The DIP joints
92
Patients with rheumatoid arthritis will sometimes show ________ drift in their fingers and ________ deviation in their wrists.
Patients with rheumatoid arthritis will sometimes show **_ulnar_** drift in their fingers and **_radial_** deviation in their wrists.
93
List some of the systemic S/Sy associated with rheumatoid arthritis.
Fever Malaise Myalgias Weight loss
94
Describe the histology of the rheumatoid nodules seen in rheumatoid arthritis.
Central zones of **necrosis** **surrounded** by **epithelioid** **histiocytes**
95
Where do rheumatoid nodules arise in patients with rheumatoid arthritis?
The **skin** and **visceral** **organs**
96
A patient with rheumatoid arthritis presents with a mass behind their knee. What is the likely diagnosis?
A **Baker cyst**
97
**True/False**. Rheumatoid arthritis is associated with vasculitis (possibly of multiple organs), pleural effusions, lymphadenopathy, and interstitial lung fibrosis.
True.
98
Rheumatoid factor is an Ig\_\_\_\_ against the ____ portion of Ig\_\_\_\_.
Rheumatoid factor is an Ig**_M_** against the **_Fc_** portion of Ig**_G_**.
99
**True/False**. Rheumatoid arthritis is associated with polycythemia and primary amyloidosis.
**False**. Rheumatoid arthritis is associated with ***anemia*** and ***secondary*** amyloidosis.
100
**True/False**. Synovial fluid in affected joints of patients with rheumatoid arthritis will show a high lymphocyte count and high glucose count.
**False**. Synovial fluid in affected joints of patients with rheumatoid arthritis will show a high ***neutrophil*** count and high ***protein*** count.
101
What makes the seronegative spondyloarthropathies serum negative?
They are rheumatoid factor negative
102
The seronegative spondyloarthropathies are associated with HLA-\_\_\_\_\_ and typically involve the _________ skeleton.
The seronegative spondyloarthropathies are associated with HLA-**_B27_** and typically involve the **_axial_** skeleton.
103
Name the four major seronegative spondyloarthropathies.
**Psoriatic** arthritis **Ankylosing spondylitis** **Irritable bowel** syndrome **Reactive** arthritis
104
**True/False**. Psoriatic arthritis is seen in up to 90% of cases of psoriasis.
**False**. Psoriatic arthritis is seen in **~_10_**% of cases of psoriasis.
105
Psoriatic arthritis often involves the _____ skeleton and the ______ joints of the hands and feet (leading to '\_\_\_\_\_\_\_\_\_' fingers or toes).
Psoriatic arthritis often involves the **_axial_** skeleton and the **_DIP_** joints of the hands and feet (leading to '**_sausage_**' fingers or toes).
106
Name two extra-articular manifestations of ankylosing spondylitis.
**Uveitis** **Aortitis** (leading to aortic regurgitation)
107
What are the three major components of reactive arthritis?
Conjunctivitis Urethritis Arthritis
108
Reactive arthritis is most commonly seen in ________ \_\_\_\_\_\_\_\_ (demographic) weeks after a GI or chlamydial infection.
Reactive arthritis is most commonly seen in **_young_** **_males_** weeks after a GI or chlamydial infection.
109
What is the most common etiology of infectious arthritis? And the second most common?
***N. gonorrhoeae*** (often in young adults) ***E. coli*** (typically older children and adults)
110
What are some of the clinical and/or laboratory findings in a patient with infectious arthritis?
Single joint affected (often **the** **knee**); decreased **range** **of** **motion** in that joint; **fever**, **leukocytosis**; elevated **ESR**
111
In gout, ________ crystals deposit in tissues. In pseudogout, ________ crystals deposit in tissues.
In gout, **_monosodium urate_** crystals deposit in tissues. In pseudogout, **_calcium pyrophosphate dihydrate_** crystals deposit in tissues.
112
In gout, synovial fluid shows \_\_\_\_\_\_\_\_-shaped crystals. In pseudogout, synovial fluid shows \_\_\_\_\_\_\_\_-shaped crystals.
In gout, synovial fluid shows **_needle_**-shaped crystals. In pseudogout, synovial fluid shows **_rhomboid_**-shaped crystals.
113
In gout, synovial fluid shows needle-shaped crystals that show _______ \_\_\_\_\_\_\_ under polarized light. In pseudogout, synovial fluid shows rhomboid-shaped crystals that show _______ \_\_\_\_\_\_\_ _______ under polarized light.
In gout, synovial fluid shows needle-shaped crystals that show **_negative birefringence_** under polarized light. In pseudogout, synovial fluid shows rhomboid-shaped crystals that show **_weakly_** **_positive_** **_refringence_** under polarized light.
114
Which is the more common cause of gout, primary hyperuricemia or secondary hyperuricemia?
Primary hyperuricemia | (etiology often unknown)
115
Name a few causes of secondary hyperuricemia associated with gout development.
**Leukemia** / **myeloproliferative** disorders (high cell turnover) **Lesch**-**Nyhan** syndrome (HGPRT deficiency) **Renal** **insufficiency** (decreased uric acid excretion)
116
What are gout tophi?
**White, chalky aggregates** of uric acid crystals with **fibrosis** and **giant** **cell reaction** in the soft tissue and joints
117
What term refers to acute gout presenting as an exquisitely painful arthritis of the great toe?
Podagra
118
**True/False**. Renal insufficiency can lead to hyperuricemia and gout. Hyperuricemia can then precipitate urate nephropathy and renal failure.
True.
119
What do we know about the inciting etiology of dermatomyositis?
Typically **idiopathic**; also associated with some **carcinomas** (e.g. gastric​ carcinomas)
120
What are some of the characteristic dematologic findings of dermatomyositis?
Heliotrope and malar **rashes** + **Red papules** on elbows, knuckles, and knees
121
What are the laboratory findings of dermatomyositis?
Elevated **creatine kinase** Positive **anti-nuclear** and **anti-Jo-1** antibodies
122
What are the muscle biopsy findings in patients with dermatomyositis?
Perimysial inflammation (CD4+ T cells) + perifascicular atrophy
123
**True/False**. Polymyositis is very similar to dermatomyositis, just without the dematologic clinical findings.
True.
124
**Polymyositis** is characterized by muscle \_\_\_\_\_\_\_mysial infiltration with CD\_\_+ T cells. **Dermatomyositis** is characterized by muscle \_\_\_\_\_\_\_mysial infiltration with CD\_\_+ T cells.
**Polymyositis** is characterized by muscle **_endo_**mysial infiltration with CD**_8_**+ T cells. **Dermatomyositis** is characterized by muscle **_peri_**mysial infiltration with CD**_4_**+ T cells.
125
Duchenne muscular dystrophy is caused by a(n) __________ in the dystrophin gene. Becker muscular dystrophy is caused by a(n) __________ in the dystrophin gene.
Duchenne muscular dystrophy is caused by a **_deletion_** in the dystrophin gene. Becker muscular dystrophy is caused by an **_in-frame mutation_** in the dystrophin gene.
126
**True/False**. Duchenne muscular dystrophy typically only involves the skeletal muscle.
**False**. The myocardium is commonly involved.
127
Duchenne muscular dystrophy commonly results in death due to what complications?
Cardiac or respiratory failure
128
Which form of muscular dystrophy results due to a mutation in the dystrophin gene and leads to a later/milder course of disease than Duchenne muscular dystrophy?
Becker muscular dystrophy
129
Duchenne muscular dystrophy follows what inheritance pattern? Becker muscular dystrophy follows what inheritance pattern?
X-linked X-linked
130
Identify which of the following (or both) classically involves the eyes: ## Footnote **Myasthenia gravis** **Lambert-Eaton syndrome**
Myasthenia gravis
131
Identify in which of the following (or both) the muscle weakness associated with the disease should improve with muscle use: ## Footnote **Myasthenia gravis** **Lambert-Eaton syndrome**
Lambert-Eaton syndrome
132
Identify which of the following (or both) can be treated with acetylcholinesterase agents: ## Footnote **Myasthenia gravis** **Lambert-Eaton syndrome**
Myasthenia gravis (may also be treated with thymectomy if associated with thymoma)
133
How is Lambert-Eaton syndrome treated?
Resection of the malignancy (typically small cell carcinoma of the lung)
134
Lambert-Eaton syndrome is associated with _________ muscle weakness.
Lambert-Eaton syndrome is associated with **_proximal_** muscle weakness.
135
**True/False**. Myasthenia gravis is equally common in men and women.
**False**. Myasthenia gravis is ***more common in*** ***women***.
136
What is the most common malignancy of soft tissue in adults? ## Footnote *(Which cell type is indicated?)*
Liposarcoma ## Footnote *(Lipoblasts are the characteristic cells.)*
137
What is the most common malignancy of soft tissue in children? ## Footnote *(Which cell type is indicated?)*
Rhabdomyosarcoma ## Footnote *(Rhabdomyloblasts are the characteristic cells.)*
138
What are the common sites of rhabdomyosarcomas in children?
The head and neck; the vagina
139
What is the most common benign soft tissue tumor in adults?
Lipomas