[MCQ] Muscular Dystrophies- Part 2

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Muscular Dystrophies- Part 2

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Question 1

Which of the following is a variant of LGMD2B ?

A	Welander distal myopathy
B	Tibial muscular dystrophy (Udd)
C	Laing distal myopathy
D	Miyoshi myopathy

Question 1 Explanation:

Miyoshi’s myopathy is variant of LGMD2B with calf muscles affected at onset

Question 2

In which of the following gastrocnemius muscles are preferentially affected at onset ?

A	Welander distal myopathy
B	Tibial muscular dystrophy (Udd)
C	Laing distal myopathy
D	Miyoshi myopathy

Question 2 Explanation:

In dysferlinopathies (LGMD2B) there is a predilection for early atrophy of gastrocnemius muscles. Miyoshi myopathy is unique in that gastrocnemius muscles are preferentially affected at onset.

Question 3

Which of the following muscular dystrophy has its onset at birth ?

A	Muscle-eye-brain disease
B	Walker-Warburg syndrome
C	Myotubular myopathy
D	All of the above

Question 3 Explanation:

Merosin deficiency, Fukitin-related protein deficiency, Fukuyama congenital muscular dystrophy, Muscle-eye-brain disease, Walker-Warburg syndrome are congenital muscular dystrophies that have an onset at birth. Clinically, Walker-Warburg syndrome is more severe, with death by 1 year.

Question 4

Which of the following muscles is relatively spared in Facioscapulohumeral (FSH) muscular dystrophy ?

A	Facial
B	Biceps
C	Triceps
D	Deltoid

Question 4 Explanation:

Facial weakness is the initial manifestation in Facioscapulohumeral (FSH) Muscular Dystrophy. Weakness of shoulder girdles brings patient to the doctor. Scapular winging is common. Biceps, triceps, wrist extensors & muscles weakness of anterior compartment muscles of legs are severely affected, with relative sparing of deltoid muscles.

Question 5

Which of the following distal myopathy begins in hands ?

A	Welander distal myopathy
B	Tibial muscular dystrophy
C	Nonanka distal myopathy
D	Miyoshi myopathy

Question 5 Explanation:

In autosomal dominant Welander’s distal myopathy, onset is in 5th decade, weakness begins in hands and slowly progresses to involve distal lower extremities. Lifespan is normal.

Question 6

Which of the following distal myopathies begin in lower limbs ?

A	Tibial muscular dystrophy
B	Nonanka distal myopathy
C	Miyoshi myopathy
D	All of the above

Question 7

Serum CK is elevated most in which of the following distal myopathies ?

A	Welander distal myopathy
B	Tibial muscular dystrophy
C	Nonanka distal myopathy
D	Miyoshi myopathy

Question 7 Explanation:

Serum CK level is is very elevated in Miyoshi myopathy. In other distal myopathies, serum CK is only slightly increased.

Question 8

Which of the following is not a congenital myopathy ?

A	Central core disease
B	Nemaline (rod) myopathy
C	Miyoshi myopathy
D	Centronuclear (myotubular) myopathy

Question 8 Explanation:

Miyoshi myopathy is a type of distal myopathy. Minicore myopathy (multi-minicore disease), fingerprint body myopathy, and sarcotubular myopathy are also congenital myopathies.

Question 9

Patients with which of the following congenital myopathies are susceptibile to malignant hyperthermia ?

A	Central core disease
B	Nemaline (rod) myopathy
C	Centronuclear (myotubular) myopathy
D	All of the above

Question 9 Explanation:

Malignant hyperthermia during anesthesia may occur in central core disease. C-terminal mutations of the RYR1 gene (ryanodine receptor gene on chromosome 19q) predispose to this complication.

Question 10

Severe brain impairment is seen in which of the following congenital muscular dystrophies ?

A	Fukuyama congenital muscular dystrophy (FCMD)
B	Muscle-eye-brain (MEB) disease
C	Walker-Warburg syndrome (WWS)
D	All of the above

Question 10 Explanation:

Congenital muscular dystrophy with severe brain impairment are FCMD, MEB disease & WWS. In MEB & WWS, but not in FCMD, vision is impaired. WWS is the most severe congenital muscular dystrophy.

Question 11

Which of the following enzyme is not found in muscle ?

A	Aspartate aminotransferase (AST)
B	Alanine aminotransferase (ALT)
C	Lactic dehydrogenase (LDH)
D	γ-glutamyl transferase (GGT)

Question 11 Explanation:

Enzymes AST, ALT, aldolase and LDH originate in both muscle & liver. Origin of GGT is liver and is not found in muscle

Question 12

“Hatchet-faced” appearance is typical of which of the following condition ?

A	Facioscapulohumeral (FSH) Muscular Dystrophy
B	Myotonic dystrophy
C	Emery-Dreifuss Muscular Dystrophy
D	Limb-Girdle Muscular Dystrophy

Question 12 Explanation:

Patients with myotonic dystrophy have a typical “hatchet-faced” appearance due to temporalis, masseter and facial muscle atrophy and weakness. Frontal baldness is also a characteristic feature.

Question 13

Which of the following is an “antimyotonia drug” ?

A	Mexiletine
B	Amiodarone
C	Flecainide
D	Sotalol

Question 13 Explanation:

Phenytoin & mexiletine are the preferred antimyotonia drugs.

Question 14

Which of the following is a principal source of energy for skeletal muscles ?

A	Amono acid
B	Fatty acid
C	Lactic acid
D	All of the above

Question 14 Explanation:

Fatty acids and glucose are are the two principal sources of energy for skeletal muscles.

Question 15

Alpha-glucosidase or acid maltase deficiency is also called ?

A	Leigh’s syndrome
B	Kearns-Sayre Syndrome (KSS)
C	Pompe’s Disease
D	McArdle’s disease

Question 15 Explanation:

Alpha-glucosidase or acid maltase deficiency is also called Pompe’s Disease.

Question 16

Which out of the following is the most common alpha-glucosidase, or acid maltase deficiency ?

A	Infantile form
B	Childhood form
C	Adult form
D	None of the above

Question 16 Explanation:

There are three clinical forms of alpha-glucosidase, or acid maltase deficiency (type II glycogenosis). The infantile form is the most common, with onset of symptoms in the first 3 months of life

Question 17

Which of the following about Pompe’s disease is false ?

A	Autosomal recessive disorder
B	Caused by mutations of the alpha-glucosidase gene
C	Enzyme replacement tt. beneficial in infantile-onset type
D	None of the above

Question 17 Explanation:

Enzyme replacement therapy (ERT) with IV recombinant human alpha-glucosidase is beneficial in infantile-onset type.

Question 18

Which of the following is a disorder of glycolysis causing exercise intolerance ?

A	Myophosphorylase deficiency
B	Phosphofructokinase deficiency
C	Lactate dehydrogenase deficiency
D	All of the above

Question 18 Explanation:

Disorders of glycolysis causing exercise intolerance include myophosphorylase deficiency (type V glycogenosis), phosphofructokinase deficiency (type VII glycogenosis), phosphoglycerate kinase deficiency (type IX glycogenosis), phosphoglycerate mutase deficiency (type X glycogenosis), lactate dehydrogenase deficiency (glycogenosis type XI), and beta-enolase deficiency. These glycolytic defects are associated with recurrent myoglobinuria.

Question 19

Which of the following is called McArdle’s disease ?

A	Myophosphorylase deficiency
B	Phosphofructokinase deficiency
C	Lactate dehydrogenase deficiency
D	Beta-enolase deficiency

Question 19 Explanation:

Myophosphorylase deficiency is also called McArdle’s disease and is the most common of the glycolytic defects associated with exercise intolerance

Question 20

Seizure disorder with mental retardation is a feature of which of the following ?

A	Myophosphorylase deficiency
B	Phosphofructokinase deficiency
C	Phosphoglycerate kinase deficiency
D	Beta-enolase deficiency

Question 20 Explanation:

In McArdle’s disease, exercise tolerance is enhanced by warm-up or brief periods of rest. Hemolytic anemia accompany deficiencies of phosphofructokinase & phosphoglycerate kinase. Seizure disorder with mental retardation is the usual clinical presentation in phosphoglycerate kinase deficiency.

Question 21

Which of the following is a X-linked recessive disorder ?

A	Myophosphorylase deficiency
B	Phosphofructokinase deficiency
C	Phosphoglycerate mutase deficiency
D	Phosphoglycerate kinase deficiency

Question 21 Explanation:

Myophosphorylase deficiency, phosphofructokinase deficiency & phosphoglycerate mutase deficiency are inherited as autosomal recessive disorders. Phosphoglycerate kinase deficiency has X-linked recessive inheritance.

Question 22

Which of the following statements about lipid as energy source is false ?

A	Fatty acids are derived from circulating VLDL in blood
B	Fatty acids are derived from triglycerides in muscle fibers
C	Oxidation of fatty acids occurs in mitochondria
D	None of the above

Question 23

To enter mitochondria, a fatty acid must first be converted to ?

A	Enoyl–acyl carrier
B	Acyl-NADH
C	Acyl-CoA
D	Amino-acyl-tRNA

Question 23 Explanation:

Oxidation of fatty acids occurs in mitochondria. To enter mitochondria, a fatty acid must first be converted to an “activated fatty acid,” acyl-CoA.

Question 24

Acyl-CoA must be linked to which of the following for transport into mitochondria ?

A	Acyl-CoA dehydrogenase
B	Cystinosin
C	Carnitine
D	Carnitine palmitoyltransferase (CPT) I

Question 24 Explanation:

Acyl-CoA must be linked with carnitine by enzyme carnitine palmitoyltransferase (CPT) I for transport into mitochondria

Question 25

Enzyme carnitine palmitoyltransferase (CPT) I is present on ?

A	Outer side of outer mitochondrial membrane
B	Inner side of outer mitochondrial membrane
C	Outer side of inner mitochondrial membrane
D	Inner side of inner mitochondrial membrane

Question 25 Explanation:

Carnitine palmitoyltransferase (CPT) I is present on inner side of outer mitochondrial membrane.

Question 26

Enzyme carnitine palmitoyltransferase (CPT) II is present on ?

A	Outer side of outer mitochondrial membrane
B	Inner side of outer mitochondrial membrane
C	Outer side of inner mitochondrial membrane
D	Inner side of inner mitochondrial membrane

Question 26 Explanation:

Carnitine is removed by CPT II, an enzyme attached to the inside of inner mitochondrial membrane, allowing transport of acyl-CoA into the mitochondrial matrix for beta-oxidation.

Question 27

Myoglobinuria in CPT II deficiency is precipitated by ?

A	Prolonged exercise
B	Fasting
C	Infections
D	All of the above

Question 27 Explanation:

CPT II deficiency is much more common in men than women (5:1) and is the most common recognizable cause of recurrent myoglobinuria. Muscle pain and myoglobinuria can be precipitated by prolonged exercise, fasting or infections.

Question 28

Which of the following is false about human mitochondrial DNA (mtDNA) ?

A	Double-stranded circular molecule
B	Codes for transfer & ribosomal RNAs & polypeptides
C	Directly inherited from cytoplasm of oocyte mainly
D	None of the above

Question 28 Explanation:

Each mitochondrion possesses a DNA genome that is distinct from that of nuclear DNA. Human mitochondrial DNA (mtDNA) consists of a double-strand, circular molecule comprising 16,569 base pairs. It codes for 22 transfer RNAs, 2 ribosomal RNAs, and 13 polypeptides of the respiratory chain enzymes. Genetics of mitochondrial diseases differ from genetics of chromosomal disorders. DNA of mitochondria is directly inherited from the cytoplasm of gametes, mainly oocyte. Sperm contributes very little. Thus, mitochondrial genes are derived almost exclusively from mother

Question 29

Which of the following is a mitochondrial myopathy ?

A	Chronic progressive external ophthalmoplegia (CPEO)
B	Skeletal muscle - CNS syndromes
C	Pure myopathy
D	All of the above

Question 29 Explanation:

Mitochondrial myopathies include chronic progressive external ophthalmoplegia (CPEO), skeletal muscle - CNS syndromes & pure myopathy.

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See all quizzes of Muscular Dystrophies- Part 2 here:

1 Which of the following is a variant of LGMD2B ?
A. Welander distal myopathy
B. Tibial muscular dystrophy (Udd)
C. Laing distal myopathy
D. Miyoshi myopathy

2 In which of the following gastrocnemius muscles are preferentially
affected at onset ?
A. Welander distal myopathy
B. Tibial muscular dystrophy (Udd)
C. Laing distal myopathy
D. Miyoshi myopathy

3 Which of the following muscular dystrophy has its onset at
birth ?
A. Muscle-eye-brain disease
B. Walker-Warburg syndrome
C. Myotubular myopathy
D. All of the above

4 Which of the following muscles is relatively spared in
Facioscapulohumeral (FSH) muscular dystrophy ?
A. Facial
B. Biceps
C. Triceps
D. Deltoid

5 Which of the following distal myopathy begins in hands ?
A. Welander distal myopathy
B. Tibial muscular dystrophy
C. Nonanka distal myopathy
D. Miyoshi myopathy

6 Which of the following distal myopathies begin in lower limbs ?
A. Tibial muscular dystrophy
B. Nonanka distal myopathy
C. Miyoshi myopathy
D. All of the above
7 Serum CK is elevated most in which of the following distal
myopathies ?
A. Welander distal myopathy
B. Tibial muscular dystrophy
C. Nonanka distal myopathy
D. Miyoshi myopathy

8 Which of the following is not a congenital myopathy ?
A. Central core disease
B. Nemaline (rod) myopathy
C. Miyoshi myopathy
D. Centronuclear (myotubular) myopathy

9 Patients with which of the following congenital myopathies are
susceptibile to malignant hyperthermia ?
A. Central core disease
B. Nemaline (rod) myopathy
C. Centronuclear (myotubular) myopathy
D. All of the above

10 Severe brain impairment is seen in which of the following
congenital muscular dystrophies ?
A. Fukuyama congenital muscular dystrophy (FCMD)
B. Muscle-eye-brain (MEB) disease
C. Walker-Warburg syndrome (WWS)
D. All of the above

11 Which of the following enzyme is not found in muscle ?
A. Aspartate aminotransferase (AST)
B. Alanine aminotransferase (ALT)
C. Lactic dehydrogenase (LDH)
D. -glutamyl transferase (GGT)

12 “Hatchet-faced” appearance is typical of which of the following
condition ?
A. Facioscapulohumeral (FSH) Muscular Dystrophy
B. Myotonic dystrophy
C. Emery-Dreifuss Muscular Dystrophy
D. Limb-Girdle Muscular Dystrophy

13 Which of the following is an “antimyotonia drug” ?
A. Mexiletine
B. Amiodarone
C. Flecainide
D. Sotalol

14 Which of the following is a principal source of energy for skeletal
muscles ?
A. Amono acid
B. Fatty acid
C. Lactic acid
D. All of the above

15 Alpha-glucosidase or acid maltase deficiency is also called ?
A. Leigh’s syndrome
B. Kearns-Sayre Syndrome (KSS)
C. Pompe’s Disease
D. McArdle’s disease

16 Which out of the following is the most common alpha-glucosidase,
or acid maltase deficiency ?
A. Infantile form
B. Childhood form
C. Adult form
D. None of the above

17 Which of the following about Pompe’s disease is false ?
A. Autosomal recessive disorder
B. Caused by mutations of the alpha-glucosidase gene
C. Enzyme replacement tt. beneficial in infantile-onset type
D. None of the above

18 Which of the following is a disorder of glycolysis causing exercise
intolerance ?
A. Myophosphorylase deficiency
B. Phosphofructokinase deficiency
C. Lactate dehydrogenase deficiency
D. All of the above

19 Which of the following is called McArdle’s disease ?
A. Myophosphorylase deficiency
B. Phosphofructokinase deficiency
C. Lactate dehydrogenase deficiency
D. Beta-enolase deficiency

20 Seizure disorder with mental retardation is a feature of which of
the following ?
A. Myophosphorylase deficiency
B. Phosphofructokinase deficiency
C. Phosphoglycerate kinase deficiency
D. Beta-enolase deficiency

21 Which of the following is a X-linked recessive disorder ?
A. Myophosphorylase deficiency
B. Phosphofructokinase deficiency
C. Phosphoglycerate mutase deficiency
D. Phosphoglycerate kinase deficiency

22 Which of the following statements about lipid as energy source is
false ?
A. Fatty acids are derived from circulating VLDL in blood
B. Fatty acids are derived from triglycerides in muscle fibers
C. Oxidation of fatty acids occurs in mitochondria
D. None of the above
23 To enter mitochondria, a fatty acid must first be converted to ?
A. Enoyl–acyl carrier
B. Acyl-NADH
C. Acyl-CoA
D. Amino-acyl-tRNA

24 Acyl-CoA must be linked to which of the following for transport
into mitochondria ?
A. Acyl-CoA dehydrogenase
B. Cystinosin
C. Carnitine
D. Carnitine palmitoyltransferase (CPT) I

25 Enzyme carnitine palmitoyltransferase (CPT) I is present on ?
A. Outer side of outer mitochondrial membrane
B. Inner side of outer mitochondrial membrane
C. Outer side of inner mitochondrial membrane
D. Inner side of inner mitochondrial membrane

26 Enzyme carnitine palmitoyltransferase (CPT) II is present on ?
A. Outer side of outer mitochondrial membrane
B. Inner side of outer mitochondrial membrane
C. Outer side of inner mitochondrial membrane
D. Inner side of inner mitochondrial membrane

27 Myoglobinuria in CPT II deficiency is precipitated by ?
A. Prolonged exercise
B. Fasting
C. Infections
D. All of the above

28 Which of the following is false about human mitochondrial DNA
(mtDNA) ?
A. Double-stranded circular molecule
B. Codes for transfer & ribosomal RNAs & polypeptides
C. Directly inherited from cytoplasm of oocyte mainly
D. None of the above

29 Which of the following is a mitochondrial myopathy ?
A. Chronic progressive external ophthalmoplegia (CPEO)
B. Skeletal muscle – CNS syndromes
C. Pure myopathy
D. All of the above

Muscular Dystrophies

[MCQ] Muscular Dystrophies- Part 2

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Muscular Dystrophies- Part 2

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