141 Questions
What is the key laboratory feature of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Elevated serum creatine kinase (CK)
Which of the following is a shared clinical feature of multi-mini core disease (MMCD) and rigid spine syndrome?
Both a and b
What is the key histological feature that distinguishes Collagen VI muscular dystrophies, such as Bethlem myopathy and Ullrich Congenital Muscular Dystrophy?
Dystrophic changes without mini cores
What is the key difference in the clinical presentation between Bethlem myopathy and Ullrich Congenital Muscular Dystrophy?
Both b and c
Which of the following is a characteristic feature of Congenital Muscular Dystrophies (CMDs) with no or minor brain abnormalities?
Distal laxity
Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?
Merosin-deficient CMD
Which type of mutations can cause muscular dystrophies?
Mutations in genes affecting proteins found in the cell membrane
What is the most common form of muscular dystrophy?
Duchenne Muscular Dystrophy
Which muscular dystrophy is related to dystrophin?
Duchenne Muscular Dystrophy
Which group of inherited muscle diseases involves necrosis of muscle tissue?
Muscular Dystrophies
What is the most common type of mutation found in patients with dystrophinopathies?
Large deletions
Which of the following is NOT considered a lower incidence dystroglycanopathy?
Duchenne muscular dystrophy
What is the primary function of the dystrophin protein?
To provide integrity to the sarcolemma
What is the approximate incidence of Duchenne muscular dystrophy?
1 in 3,500 male births
What percentage of Duchenne and Becker muscular dystrophy cases are the result of spontaneous mutations?
33%
Which congenital muscle disease is associated with both multi-mini core disease (MMCD) and rigid spine syndrome?
Collagen VI muscular dystrophy
What is a shared histological feature between MMCD and rigid spine syndrome?
Dystrophic changes
Which laboratory feature is characteristic of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Serum CK elevated
In Duchenne Muscular Dystrophy, what is the primary consequence of the genetic mutations?
Myofiber loss and fibrosis
What is a key histopathological feature seen in Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Myofiber loss and fibrosis
Which laboratory feature is commonly elevated in patients with Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Serum CK levels
What do patients with Collagen VI muscular dystrophies, such as Bethlem myopathy, typically present with?
Contractures and muscle weakness
Which condition is characterized by white matter changes on cerebral MRI (T2 weighted image)?
Multi-mini core disease
What is a common feature shared by multi-mini core disease (MMCD) and rigid spine syndrome?
Histology showing clear dystrophic changes without mini cores
Which of the following is the primary consequence of the genetic mutations in Duchenne Muscular Dystrophy?
Deficiency of the dystrophin protein
What is the most common type of mutation found in patients with dystrophinopathies, such as Duchenne and Becker Muscular Dystrophy?
Deletion mutations
What is the key laboratory feature of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Elevated serum creatine kinase (CK) levels
What is a shared histological feature between multi-mini core disease (MMCD) and rigid spine syndrome?
Variability in histological patterns
Which of the following is a key difference in the clinical presentation between Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)?
DMD patients typically lose ambulation by age 12, while BMD patients can remain ambulatory past 15 years of age.
What is the primary goal of treatment for patients with Duchenne Muscular Dystrophy (DMD)?
To delay the onset of respiratory failure and the need for ventilatory support.
Which of the following is a recommended treatment approach for patients with Becker Muscular Dystrophy (BMD)?
Prescription of angiotensin-converting enzyme (ACE) inhibitors to manage cardiac complications.
How do female carriers of Duchenne Muscular Dystrophy (DMD) typically present clinically?
They exhibit mild muscle weakness and are at increased risk of developing cardiomyopathy.
What is the primary mechanism of action for the corticosteroid medications used in the treatment of Duchenne Muscular Dystrophy (DMD)?
They suppress the inflammatory response and reduce muscle damage.
What is the primary genetic cause of LGMD 1A?
Mutations in the myotilin gene on chromosome 5q22.3-31.3
Which clinical feature is commonly associated with LGMD 1B?
Cardiac conduction abnormalities that can lead to sudden death
What is a common laboratory finding for patients with LGMD 1C?
Serum CK normal or elevated (25x normal)
Which of the following is a key histopathological feature seen in LGMD 1B?
Loss of peripheral heterochromatin in myonuclei
What is a common clinical feature shared between LGMD 1A and LGMD 1B?
Distal leg and occasional arm weakness
Which type of muscular dystrophy is caused by mutations in the dystrophin gene?
Duchenne Muscular Dystrophy (DMD)
What is a common complication of Duchenne Muscular Dystrophy (DMD) that can result in pain and aesthetic damage?
Contractures
In Duchenne Muscular Dystrophy, what degree of scoliosis typically warrants consideration for spinal fusion due to significant discomfort?
45°
Which gene locus is usually spanned by mutations encoding the 3’ carboxy terminus of the dystrophin protein, requiring evaluation for contiguous gene syndromes?
Glycerol kinase (GKD)
Which type of mutations are responsible for Limb-Girdle Muscular Dystrophies (LGMD) type 2, distinguishing them from dystroglycanopathies?
Autosomal recessive
What distinguishes autosomal dominant Limb-Girdle Muscular Dystrophy (LGMD) type 1 from autosomal recessive LGMD type 2?
Mutated genes
What is the primary consequence of the genetic mutations in Duchenne Muscular Dystrophy (DMD)?
Loss of dystrophin function
Which type of muscular dystrophy is associated with a contiguous gene syndrome that includes DMD?
Emery-Dreifuss Muscular Dystrophy (EDMD)
Which type of Limb-Girdle Muscular Dystrophy (LGMD) is caused by mutations in the dysferlin gene?
LGMD 2B
What is a key difference in the clinical presentation between LGMD 1A (Myotilin) and LGMD 1B (Lamin A/C)?
LGMD 1B is associated with cardiac and respiratory involvement
What is the primary function of the dysferlin protein, which is mutated in LGMD 2B (Miyoshi Myopathy)?
Calcium-dependent repair of muscle cell membranes
Which Limb-Girdle Muscular Dystrophy (LGMD) subtype is associated with caveolin-3 mutations?
LGMD 1C
What is a characteristic clinical feature of LGMD 2A (Calpainopathies)?
All of the above
What is the gold standard diagnostic test for LGMD 2A (Calpainopathies)?
CAPN3 gene sequencing
Which of the following statements about the CAPN3 gene mutations in the provided example is correct?
The patient is a compound heterozygote with one novel and one previously reported mutation
Which of the following is a characteristic clinical feature of LGMD 2B (Miyoshi Myopathy)?
Weakness and atrophy of calf muscles
What gene is mutated in LGMD 2B (Miyoshi Myopathy)?
DYSF
What is a characteristic feature of the disease progression in LGMD 2B (Miyoshi Myopathy)?
Disease progression is usually slow, with some patients retaining ambulation late in life
Which of the following is the genetic cause of LGMD 2A (Calpainopathies)?
Mutations in the CAPN3 gene encoding calpain 3
Which of the following is a characteristic feature of LGMD 2A (Calpainopathies)?
Symmetric proximal muscle weakness with early involvement of the posterior compartment muscles
Which of the following is the recommended diagnostic test for LGMD 2A (Calpainopathies)?
Genetic testing for CAPN3 gene mutations
Which of the following muscles are typically spared in LGMD 2B (Miyoshi Myopathy)?
Quadriceps and hamstrings
Which of the following is a characteristic feature of LGMD 2B (Miyoshi Myopathy)?
Onset of weakness in the distal lower leg muscles, such as the gastrocnemius and soleus
Which of the following is NOT a characteristic feature of LGMD 2A (Calpainopathies) or LGMD 2B (Miyoshi Myopathy)?
Cardiomyopathy with conduction abnormalities
What is the primary clinical presentation of LGMD 2B (Miyoshi Myopathy)?
Weakness restricted to calf muscles
What is the primary function of the dysferlin protein that is mutated in LGMD 2B?
Membrane repair and resealing of the muscle fiber
Which of the following is a key genetic finding in patients with LGMD 2B (Miyoshi Myopathy)?
Mutations in the dysferlin gene (DYSF)
What is a common histopathological feature observed in muscle biopsies from patients with LGMD 2B (Miyoshi Myopathy)?
Endomysial or perivascular inflammatory changes
Which of the following is a characteristic laboratory finding in patients with LGMD 2B (Miyoshi Myopathy)?
Serum CK levels elevated 35-200 times above normal
Which sarcoglycanopathy subtype is associated with severe weakness and mimics Duchenne Muscular Dystrophy (DMD) in its progression?
LGMD2D
What percentage of patients with a limb-girdle pattern and positive dystrophin have α-sarcoglycanopathies (LGMD2D)?
6%
In patients with LGMD 2B (Miyoshi Myopathy), which muscle group is typically spared?
Quadriceps muscles
Which gene is mutated in LGMD2B (Miyoshi Myopathy)?
DYSF
What is a key clinical feature that distinguishes Sarcoglycanopathies (LGMD2C-2F) from other forms of muscular dystrophy?
Dilated cardiomyopathy
Which protein has its primary function affected in LGMD2B (Miyoshi Myopathy)?
Dysferlin
What is a characteristic histopathological feature observed in muscle biopsies from patients with Sarcoglycanopathies (LGMD2C-2F)?
T2 abnormalities on MRI
Which of the following is a key genetic finding in patients with Sarcoglycanopathies (LGMD2C-2F)?
Mutations in the SGCA gene
What distinguishes Dysferlin protein, which is affected in LGMD2B (Miyoshi Myopathy), from dystrophin?
Is involved in calcium-mediated membrane fusion events
Which of the following statements accurately describes the clinical presentation of LGMD 2B (Miyoshi Myopathy) caused by dysferlin mutations?
It presents with muscle weakness restricted to the calf muscles.
Which of the following statements accurately describes the sarcoglycanopathies (LGMD 2C-2F)?
They are autosomal recessive disorders caused by mutations in any of the four sarcoglycan genes.
Which of the following statements accurately describes the clinical presentation of sarcoglycanopathies?
Onset is typically in the first to third decade, with loss of ambulation in the second to fourth decade.
Which of the following statements accurately describes the genetic basis of sarcoglycanopathies?
Mutations in any of the four sarcoglycan genes can cause LGMD 2C-2F, making exact diagnosis challenging.
Which of the following statements accurately describes the laboratory findings in sarcoglycanopathies?
Serum CK levels are markedly elevated, often more than 50 times the normal level.
Which of the following statements accurately describes the genetic basis of LGMD 2B (Miyoshi Myopathy)?
It is an autosomal recessive disorder caused by mutations in the dysferlin gene.
What is the primary clinical presentation of LGMD 2I, caused by mutations in the FKRP gene?
Predominantly proximal lower limb weakness
Which of the following is a key clinical clue that may suggest an autosomal recessive form of LGMD in a patient?
Onset in childhood
Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?
Merosin-deficient Congenital Muscular Dystrophy Type 1A (MDC1A)
What is a key histological feature that distinguishes Collagen VI muscular dystrophies, such as Bethlem myopathy and Ullrich Congenital Muscular Dystrophy?
Increased endomysial fibrosis
Which of the following is a characteristic clinical feature of LGMD 2I, caused by mutations in the FKRP gene?
Calf muscle hypertrophy
What is a common laboratory finding for patients with Congenital Muscular Dystrophies, such as Merosin-deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Markedly elevated serum creatine kinase (CK) levels
Which of the following is the genetic cause of Limb-Girdle Muscular Dystrophy type 2I (LGMD2I)?
Mutations in the fukutin-related protein (FKRP) gene
Which of the following clinical features is commonly observed in patients with LGMD2I (FKRP-related)?
Proximal muscle weakness and high serum creatine kinase (CK) levels
Which of the following statements regarding autosomal recessive Limb-Girdle Muscular Dystrophies (LGMD) is correct?
Spontaneous mutations are common, so lack of family history does not exclude the diagnosis.
Which of the following clinical clues may suggest a diagnosis of Congenital Muscular Dystrophy (CMD) rather than an LGMD?
Muscle weakness present from birth or early infancy
Which of the following histopathological features is commonly observed in muscle biopsies of patients with LGMD2I (FKRP-related)?
Increased connective tissue deposition and muscle fiber size variation
Which of the following statements regarding Congenital Muscular Dystrophies (CMD) is correct?
CMD is characterized by muscle weakness present from birth or early infancy.
Which of the following statements about LGMD 2I (FKRP-related) is accurate?
Calf hypertrophy, facial weakness, and elevated CK levels are characteristic features.
Which of the following clinical features is NOT commonly associated with autosomal recessive LGMDs?
Proximal weakness predominating over distal weakness
Which of the following congenital muscular dystrophies is characterized by hypoglycosylation of $\alpha$-dystroglycan?
Walker-Warburg Syndrome (WWS)
Which of the following statements about the clinical presentation of congenital muscular dystrophies (CMDs) with no or minor brain abnormalities is accurate?
Muscle weakness and hypotonia are common presenting features.
Which of the following histopathological findings is characteristic of sarcoglycanopathies (LGMD2C-2F)?
Reduced or absent sarcoglycan staining
Which of the following statements accurately describes the genetic basis of autosomal recessive LGMDs?
They are caused by mutations in genes encoding components of the dystrophin-associated glycoprotein complex.
What is a key clinical feature that distinguishes Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A) from other forms of Congenital Muscular Dystrophies?
Delayed motor milestones and hypotonia at birth
Which laboratory feature is commonly elevated in patients with Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Serum creatine kinase (CK) levels
What is the primary consequence of the genetic mutations in Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Deficiency of the laminin alpha-2 protein
Which of the following is a characteristic clinical feature of Congenital Muscular Dystrophies with no or minor brain abnormalities?
Delayed motor milestones and hypotonia at birth
Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?
Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)
What is a shared histological feature between multi-mini core disease (MMCD) and rigid spine syndrome?
Nemaline rod-like inclusions
What is a key clinical feature of Congenital Muscular Dystrophies (CMDs) with no or minor brain abnormalities?
Prominent contractures of the feet and hips
What is the primary cause of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Mutations in the LAMA2 gene
Which of the following is a characteristic brain imaging finding in Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Increased signal in the white matter on T2-weighted MRI
What is the typical onset of symptoms in Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Onset at birth to 6 months of age
Which of the following is a common clinical feature of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Distal laxity
What is the typical intelligence level in patients with Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Normal intelligence
What is the primary clinical presentation of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Hypotonia, weakness, and onset from birth to 6 months
Which of the following is a key laboratory feature of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Elevated serum creatine kinase (CK) levels
What is the primary genetic cause of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?
Mutations in the LAMA2 gene
What is a characteristic clinical feature of Congenital Muscular Dystrophies (CMDs) with no or minor brain abnormalities?
Hypotonia, weakness, and onset from birth to 6 months
Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?
Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)
Which of the following is a key clinical feature shared between multi-mini core disease (MMCD) and rigid spine syndrome?
Rigid spine and respiratory muscle involvement
What is the primary gene mutation associated with Walker Warburg Syndrome?
POMT1
Which of the following is a key clinical feature of Muscle-Eye-Brain disease caused by POMGnT1 mutations?
Secondary deficiency of merosin and alpha-dystroglycan
What is the primary function of the Selenoprotein N protein, which is mutated in Selenoprotein N-related disorders?
Calcium homeostasis and oxidative stress response
Which of the following is a characteristic histopathological feature of Collagen VI muscular dystrophies, such as Bethlem myopathy and Ullrich Congenital Muscular Dystrophy?
Increased endomysial connective tissue
Which of the following dystroglycanopathies is associated with the most severe clinical phenotype, including early onset, brain malformations, and eye abnormalities?
Walker Warburg Syndrome
Which gene is typically mutated in patients with Muscle-Eye-Brain disease?
POMGnT1
Which of the following conditions is associated with both multi-mini core disease (MMCD) and rigid spine syndrome?
Selenoprotein N disorders
What is a key histological feature that distinguishes Collagen VI muscular dystrophies, such as Bethlem myopathy and Ullrich Congenital Muscular Dystrophy?
Abnormal scarring
Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?
Merosin-deficient Congenital Muscular Dystrophy Type 1A (MDC1A)
Which type of muscular dystrophy is associated with hypoglycosylation of $\alpha$-dystroglycan?
Dystroglycanopathies
What is a key clinical feature shared between multi-mini core disease (MMCD) and rigid spine syndrome?
Contractures
Which of the following is NOT considered a lower incidence dystroglycanopathy?
Bethlem Myopathy
Which of the following genes is associated with Muscle-Eye-Brain disease and Walker-Warburg syndrome?
POMGnT1
What is the primary function of the Selenoprotein N (SEPN1) gene?
Encoding a protein involved in the synthesis of selenoproteins
Which of the following is a characteristic feature of Collagen VI muscular dystrophies, such as Bethlem myopathy?
Proximal muscle weakness and contractures
Which of the following disorders is associated with defective glycosylation of alpha-dystroglycan?
Dystroglycanopathies, including Fukuyama CMD and LGMD2I
Which of the following genes is associated with Walker-Warburg syndrome, a severe form of congenital muscular dystrophy with brain and eye abnormalities?
FKRP
Which of the following is a characteristic feature of Dystroglycanopathies, such as Fukuyama congenital muscular dystrophy and LGMD2I?
Abnormal glycosylation of alpha-dystroglycan
Which type of muscular dystrophy is caused by a CCTG expansion in intron 1 of the zinc finger protein ZNF9 gene?
Myotonic Dystrophy type 2 (DM2)
What is the primary clinical feature of Myotonic Dystrophy type 2 (DM2)?
Progressive muscle wasting and weakness with myotonia
What is the most common genetic cause of Facioscapulohumeral dystrophy (FSHD)?
Deletion in the D4Z4 repeating sequence on chromosome 4q35
Which of the following is a characteristic feature of the clinical presentation in Myotonic Dystrophy type 1 (DM1)?
Long face with mournful expression
What is a key difference between Myotonic Dystrophy type 1 (DM1) and Myotonic Dystrophy type 2 (DM2) in terms of disease progression?
DM2 exhibits greater anticipation compared to DM1
Explore the genetics of muscular dystrophies and myopathies, including the distinct mutations in genes affecting various proteins in muscle tissue. Learn about the group of inherited, progressive muscle diseases characterized by necrosis of muscle tissue.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
