Genetics of Muscular Dystrophies Overview
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Questions and Answers

What is the key laboratory feature of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

  • Elevated serum creatine kinase (CK) (correct)
  • Normal serum CK levels
  • Abnormal myelination on cerebral MRI
  • Decreased serum CK levels

    • Which of the following is a shared clinical feature of multi-mini core disease (MMCD) and rigid spine syndrome?

  • Muscle weakness and wasting
  • Abnormal scarring
  • Contractures
  • Both a and b (correct)

    • 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 (correct)
  • Fibrosis and myofiber loss
  • Inflammatory cell infiltration
  • Variation in fiber size

    • What is the key difference in the clinical presentation between Bethlem myopathy and Ullrich Congenital Muscular Dystrophy?

    <p>Both b and c</p> Signup and view all the answers

    Which of the following is a characteristic feature of Congenital Muscular Dystrophies (CMDs) with no or minor brain abnormalities?

    <p>Distal laxity</p> Signup and view all the answers

    Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?

    <p>Merosin-deficient CMD</p> Signup and view all the answers

    Which type of mutations can cause muscular dystrophies?

    <p>Mutations in genes affecting proteins found in the cell membrane</p> Signup and view all the answers

    What is the most common form of muscular dystrophy?

    <p>Duchenne Muscular Dystrophy</p> Signup and view all the answers

    Which muscular dystrophy is related to dystrophin?

    <p>Duchenne Muscular Dystrophy</p> Signup and view all the answers

    Which group of inherited muscle diseases involves necrosis of muscle tissue?

    <p>Muscular Dystrophies</p> Signup and view all the answers

    What is the most common type of mutation found in patients with dystrophinopathies?

    <p>Large deletions</p> Signup and view all the answers

    Which of the following is NOT considered a lower incidence dystroglycanopathy?

    <p>Duchenne muscular dystrophy</p> Signup and view all the answers

    What is the primary function of the dystrophin protein?

    <p>To provide integrity to the sarcolemma</p> Signup and view all the answers

    What is the approximate incidence of Duchenne muscular dystrophy?

    <p>1 in 3,500 male births</p> Signup and view all the answers

    What percentage of Duchenne and Becker muscular dystrophy cases are the result of spontaneous mutations?

    <p>33%</p> Signup and view all the answers

    Which congenital muscle disease is associated with both multi-mini core disease (MMCD) and rigid spine syndrome?

    <p>Collagen VI muscular dystrophy</p> Signup and view all the answers

    What is a shared histological feature between MMCD and rigid spine syndrome?

    <p>Dystrophic changes</p> Signup and view all the answers

    Which laboratory feature is characteristic of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Serum CK elevated</p> Signup and view all the answers

    In Duchenne Muscular Dystrophy, what is the primary consequence of the genetic mutations?

    <p>Myofiber loss and fibrosis</p> Signup and view all the answers

    What is a key histopathological feature seen in Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Myofiber loss and fibrosis</p> Signup and view all the answers

    Which laboratory feature is commonly elevated in patients with Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Serum CK levels</p> Signup and view all the answers

    What do patients with Collagen VI muscular dystrophies, such as Bethlem myopathy, typically present with?

    <p>Contractures and muscle weakness</p> Signup and view all the answers

    Which condition is characterized by white matter changes on cerebral MRI (T2 weighted image)?

    <p>Multi-mini core disease</p> Signup and view all the answers

    What is a common feature shared by multi-mini core disease (MMCD) and rigid spine syndrome?

    <p>Histology showing clear dystrophic changes without mini cores</p> Signup and view all the answers

    Which of the following is the primary consequence of the genetic mutations in Duchenne Muscular Dystrophy?

    <p>Deficiency of the dystrophin protein</p> Signup and view all the answers

    What is the most common type of mutation found in patients with dystrophinopathies, such as Duchenne and Becker Muscular Dystrophy?

    <p>Deletion mutations</p> Signup and view all the answers

    What is the key laboratory feature of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Elevated serum creatine kinase (CK) levels</p> Signup and view all the answers

    What is a shared histological feature between multi-mini core disease (MMCD) and rigid spine syndrome?

    <p>Variability in histological patterns</p> Signup and view all the answers

    Which of the following is a key difference in the clinical presentation between Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)?

    <p>DMD patients typically lose ambulation by age 12, while BMD patients can remain ambulatory past 15 years of age.</p> Signup and view all the answers

    What is the primary goal of treatment for patients with Duchenne Muscular Dystrophy (DMD)?

    <p>To delay the onset of respiratory failure and the need for ventilatory support.</p> Signup and view all the answers

    Which of the following is a recommended treatment approach for patients with Becker Muscular Dystrophy (BMD)?

    <p>Prescription of angiotensin-converting enzyme (ACE) inhibitors to manage cardiac complications.</p> Signup and view all the answers

    How do female carriers of Duchenne Muscular Dystrophy (DMD) typically present clinically?

    <p>They exhibit mild muscle weakness and are at increased risk of developing cardiomyopathy.</p> Signup and view all the answers

    What is the primary mechanism of action for the corticosteroid medications used in the treatment of Duchenne Muscular Dystrophy (DMD)?

    <p>They suppress the inflammatory response and reduce muscle damage.</p> Signup and view all the answers

    What is the primary genetic cause of LGMD 1A?

    <p>Mutations in the myotilin gene on chromosome 5q22.3-31.3</p> Signup and view all the answers

    Which clinical feature is commonly associated with LGMD 1B?

    <p>Cardiac conduction abnormalities that can lead to sudden death</p> Signup and view all the answers

    What is a common laboratory finding for patients with LGMD 1C?

    <p>Serum CK normal or elevated (25x normal)</p> Signup and view all the answers

    Which of the following is a key histopathological feature seen in LGMD 1B?

    <p>Loss of peripheral heterochromatin in myonuclei</p> Signup and view all the answers

    What is a common clinical feature shared between LGMD 1A and LGMD 1B?

    <p>Distal leg and occasional arm weakness</p> Signup and view all the answers

    Which type of muscular dystrophy is caused by mutations in the dystrophin gene?

    <p>Duchenne Muscular Dystrophy (DMD)</p> Signup and view all the answers

    What is a common complication of Duchenne Muscular Dystrophy (DMD) that can result in pain and aesthetic damage?

    <p>Contractures</p> Signup and view all the answers

    In Duchenne Muscular Dystrophy, what degree of scoliosis typically warrants consideration for spinal fusion due to significant discomfort?

    <p>45°</p> Signup and view all the answers

    Which gene locus is usually spanned by mutations encoding the 3’ carboxy terminus of the dystrophin protein, requiring evaluation for contiguous gene syndromes?

    <p>Glycerol kinase (GKD)</p> Signup and view all the answers

    Which type of mutations are responsible for Limb-Girdle Muscular Dystrophies (LGMD) type 2, distinguishing them from dystroglycanopathies?

    <p>Autosomal recessive</p> Signup and view all the answers

    What distinguishes autosomal dominant Limb-Girdle Muscular Dystrophy (LGMD) type 1 from autosomal recessive LGMD type 2?

    <p>Mutated genes</p> Signup and view all the answers

    What is the primary consequence of the genetic mutations in Duchenne Muscular Dystrophy (DMD)?

    <p>Loss of dystrophin function</p> Signup and view all the answers

    Which type of muscular dystrophy is associated with a contiguous gene syndrome that includes DMD?

    <p>Emery-Dreifuss Muscular Dystrophy (EDMD)</p> Signup and view all the answers

    Which type of Limb-Girdle Muscular Dystrophy (LGMD) is caused by mutations in the dysferlin gene?

    <p>LGMD 2B</p> Signup and view all the answers

    What is a key difference in the clinical presentation between LGMD 1A (Myotilin) and LGMD 1B (Lamin A/C)?

    <p>LGMD 1B is associated with cardiac and respiratory involvement</p> Signup and view all the answers

    What is the primary function of the dysferlin protein, which is mutated in LGMD 2B (Miyoshi Myopathy)?

    <p>Calcium-dependent repair of muscle cell membranes</p> Signup and view all the answers

    Which Limb-Girdle Muscular Dystrophy (LGMD) subtype is associated with caveolin-3 mutations?

    <p>LGMD 1C</p> Signup and view all the answers

    What is a characteristic clinical feature of LGMD 2A (Calpainopathies)?

    <p>All of the above</p> Signup and view all the answers

    What is the gold standard diagnostic test for LGMD 2A (Calpainopathies)?

    <p><em>CAPN3</em> gene sequencing</p> Signup and view all the answers

    Which of the following statements about the CAPN3 gene mutations in the provided example is correct?

    <p>The patient is a compound heterozygote with one novel and one previously reported mutation</p> Signup and view all the answers

    Which of the following is a characteristic clinical feature of LGMD 2B (Miyoshi Myopathy)?

    <p>Weakness and atrophy of calf muscles</p> Signup and view all the answers

    What gene is mutated in LGMD 2B (Miyoshi Myopathy)?

    <p><em>DYSF</em></p> Signup and view all the answers

    What is a characteristic feature of the disease progression in LGMD 2B (Miyoshi Myopathy)?

    <p>Disease progression is usually slow, with some patients retaining ambulation late in life</p> Signup and view all the answers

    Which of the following is the genetic cause of LGMD 2A (Calpainopathies)?

    <p>Mutations in the CAPN3 gene encoding calpain 3</p> Signup and view all the answers

    Which of the following is a characteristic feature of LGMD 2A (Calpainopathies)?

    <p>Symmetric proximal muscle weakness with early involvement of the posterior compartment muscles</p> Signup and view all the answers

    Which of the following is the recommended diagnostic test for LGMD 2A (Calpainopathies)?

    <p>Genetic testing for CAPN3 gene mutations</p> Signup and view all the answers

    Which of the following muscles are typically spared in LGMD 2B (Miyoshi Myopathy)?

    <p>Quadriceps and hamstrings</p> Signup and view all the answers

    Which of the following is a characteristic feature of LGMD 2B (Miyoshi Myopathy)?

    <p>Onset of weakness in the distal lower leg muscles, such as the gastrocnemius and soleus</p> Signup and view all the answers

    Which of the following is NOT a characteristic feature of LGMD 2A (Calpainopathies) or LGMD 2B (Miyoshi Myopathy)?

    <p>Cardiomyopathy with conduction abnormalities</p> Signup and view all the answers

    What is the primary clinical presentation of LGMD 2B (Miyoshi Myopathy)?

    <p>Weakness restricted to calf muscles</p> Signup and view all the answers

    What is the primary function of the dysferlin protein that is mutated in LGMD 2B?

    <p>Membrane repair and resealing of the muscle fiber</p> Signup and view all the answers

    Which of the following is a key genetic finding in patients with LGMD 2B (Miyoshi Myopathy)?

    <p>Mutations in the dysferlin gene (DYSF)</p> Signup and view all the answers

    What is a common histopathological feature observed in muscle biopsies from patients with LGMD 2B (Miyoshi Myopathy)?

    <p>Endomysial or perivascular inflammatory changes</p> Signup and view all the answers

    Which of the following is a characteristic laboratory finding in patients with LGMD 2B (Miyoshi Myopathy)?

    <p>Serum CK levels elevated 35-200 times above normal</p> Signup and view all the answers

    Which sarcoglycanopathy subtype is associated with severe weakness and mimics Duchenne Muscular Dystrophy (DMD) in its progression?

    <p>LGMD2D</p> Signup and view all the answers

    What percentage of patients with a limb-girdle pattern and positive dystrophin have α-sarcoglycanopathies (LGMD2D)?

    <p>6%</p> Signup and view all the answers

    In patients with LGMD 2B (Miyoshi Myopathy), which muscle group is typically spared?

    <p>Quadriceps muscles</p> Signup and view all the answers

    Which gene is mutated in LGMD2B (Miyoshi Myopathy)?

    <p>DYSF</p> Signup and view all the answers

    What is a key clinical feature that distinguishes Sarcoglycanopathies (LGMD2C-2F) from other forms of muscular dystrophy?

    <p>Dilated cardiomyopathy</p> Signup and view all the answers

    Which protein has its primary function affected in LGMD2B (Miyoshi Myopathy)?

    <p>Dysferlin</p> Signup and view all the answers

    What is a characteristic histopathological feature observed in muscle biopsies from patients with Sarcoglycanopathies (LGMD2C-2F)?

    <p>T2 abnormalities on MRI</p> Signup and view all the answers

    Which of the following is a key genetic finding in patients with Sarcoglycanopathies (LGMD2C-2F)?

    <p>Mutations in the SGCA gene</p> Signup and view all the answers

    What distinguishes Dysferlin protein, which is affected in LGMD2B (Miyoshi Myopathy), from dystrophin?

    <p>Is involved in calcium-mediated membrane fusion events</p> Signup and view all the answers

    Which of the following statements accurately describes the clinical presentation of LGMD 2B (Miyoshi Myopathy) caused by dysferlin mutations?

    <p>It presents with muscle weakness restricted to the calf muscles.</p> Signup and view all the answers

    Which of the following statements accurately describes the sarcoglycanopathies (LGMD 2C-2F)?

    <p>They are autosomal recessive disorders caused by mutations in any of the four sarcoglycan genes.</p> Signup and view all the answers

    Which of the following statements accurately describes the clinical presentation of sarcoglycanopathies?

    <p>Onset is typically in the first to third decade, with loss of ambulation in the second to fourth decade.</p> Signup and view all the answers

    Which of the following statements accurately describes the genetic basis of sarcoglycanopathies?

    <p>Mutations in any of the four sarcoglycan genes can cause LGMD 2C-2F, making exact diagnosis challenging.</p> Signup and view all the answers

    Which of the following statements accurately describes the laboratory findings in sarcoglycanopathies?

    <p>Serum CK levels are markedly elevated, often more than 50 times the normal level.</p> Signup and view all the answers

    Which of the following statements accurately describes the genetic basis of LGMD 2B (Miyoshi Myopathy)?

    <p>It is an autosomal recessive disorder caused by mutations in the dysferlin gene.</p> Signup and view all the answers

    What is the primary clinical presentation of LGMD 2I, caused by mutations in the FKRP gene?

    <p>Predominantly proximal lower limb weakness</p> Signup and view all the answers

    Which of the following is a key clinical clue that may suggest an autosomal recessive form of LGMD in a patient?

    <p>Onset in childhood</p> Signup and view all the answers

    Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?

    <p>Merosin-deficient Congenital Muscular Dystrophy Type 1A (MDC1A)</p> Signup and view all the answers

    What is a key histological feature that distinguishes Collagen VI muscular dystrophies, such as Bethlem myopathy and Ullrich Congenital Muscular Dystrophy?

    <p>Increased endomysial fibrosis</p> Signup and view all the answers

    Which of the following is a characteristic clinical feature of LGMD 2I, caused by mutations in the FKRP gene?

    <p>Calf muscle hypertrophy</p> Signup and view all the answers

    What is a common laboratory finding for patients with Congenital Muscular Dystrophies, such as Merosin-deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Markedly elevated serum creatine kinase (CK) levels</p> Signup and view all the answers

    Which of the following is the genetic cause of Limb-Girdle Muscular Dystrophy type 2I (LGMD2I)?

    <p>Mutations in the <strong>fukutin-related protein (FKRP)</strong> gene</p> Signup and view all the answers

    Which of the following clinical features is commonly observed in patients with LGMD2I (FKRP-related)?

    <p><strong>Proximal muscle weakness and high serum creatine kinase (CK) levels</strong></p> Signup and view all the answers

    Which of the following statements regarding autosomal recessive Limb-Girdle Muscular Dystrophies (LGMD) is correct?

    <p><strong>Spontaneous mutations are common, so lack of family history does not exclude the diagnosis.</strong></p> Signup and view all the answers

    Which of the following clinical clues may suggest a diagnosis of Congenital Muscular Dystrophy (CMD) rather than an LGMD?

    <p><strong>Muscle weakness present from birth or early infancy</strong></p> Signup and view all the answers

    Which of the following histopathological features is commonly observed in muscle biopsies of patients with LGMD2I (FKRP-related)?

    <p><strong>Increased connective tissue deposition and muscle fiber size variation</strong></p> Signup and view all the answers

    Which of the following statements regarding Congenital Muscular Dystrophies (CMD) is correct?

    <p><strong>CMD is characterized by muscle weakness present from birth or early infancy.</strong></p> Signup and view all the answers

    Which of the following statements about LGMD 2I (FKRP-related) is accurate?

    <p>Calf hypertrophy, facial weakness, and elevated CK levels are characteristic features.</p> Signup and view all the answers

    Which of the following clinical features is NOT commonly associated with autosomal recessive LGMDs?

    <p>Proximal weakness predominating over distal weakness</p> Signup and view all the answers

    Which of the following congenital muscular dystrophies is characterized by hypoglycosylation of $\alpha$-dystroglycan?

    <p>Walker-Warburg Syndrome (WWS)</p> Signup and view all the answers

    Which of the following statements about the clinical presentation of congenital muscular dystrophies (CMDs) with no or minor brain abnormalities is accurate?

    <p>Muscle weakness and hypotonia are common presenting features.</p> Signup and view all the answers

    Which of the following histopathological findings is characteristic of sarcoglycanopathies (LGMD2C-2F)?

    <p>Reduced or absent sarcoglycan staining</p> Signup and view all the answers

    Which of the following statements accurately describes the genetic basis of autosomal recessive LGMDs?

    <p>They are caused by mutations in genes encoding components of the dystrophin-associated glycoprotein complex.</p> Signup and view all the answers

    What is a key clinical feature that distinguishes Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A) from other forms of Congenital Muscular Dystrophies?

    <p>Delayed motor milestones and hypotonia at birth</p> Signup and view all the answers

    Which laboratory feature is commonly elevated in patients with Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Serum creatine kinase (CK) levels</p> Signup and view all the answers

    What is the primary consequence of the genetic mutations in Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Deficiency of the laminin alpha-2 protein</p> Signup and view all the answers

    Which of the following is a characteristic clinical feature of Congenital Muscular Dystrophies with no or minor brain abnormalities?

    <p>Delayed motor milestones and hypotonia at birth</p> Signup and view all the answers

    Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?

    <p>Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)</p> Signup and view all the answers

    What is a shared histological feature between multi-mini core disease (MMCD) and rigid spine syndrome?

    <p>Nemaline rod-like inclusions</p> Signup and view all the answers

    What is a key clinical feature of Congenital Muscular Dystrophies (CMDs) with no or minor brain abnormalities?

    <p>Prominent contractures of the feet and hips</p> Signup and view all the answers

    What is the primary cause of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Mutations in the LAMA2 gene</p> Signup and view all the answers

    Which of the following is a characteristic brain imaging finding in Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Increased signal in the white matter on T2-weighted MRI</p> Signup and view all the answers

    What is the typical onset of symptoms in Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Onset at birth to 6 months of age</p> Signup and view all the answers

    Which of the following is a common clinical feature of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Distal laxity</p> Signup and view all the answers

    What is the typical intelligence level in patients with Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Normal intelligence</p> Signup and view all the answers

    What is the primary clinical presentation of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Hypotonia, weakness, and onset from birth to 6 months</p> Signup and view all the answers

    Which of the following is a key laboratory feature of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Elevated serum creatine kinase (CK) levels</p> Signup and view all the answers

    What is the primary genetic cause of Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)?

    <p>Mutations in the LAMA2 gene</p> Signup and view all the answers

    What is a characteristic clinical feature of Congenital Muscular Dystrophies (CMDs) with no or minor brain abnormalities?

    <p>Hypotonia, weakness, and onset from birth to 6 months</p> Signup and view all the answers

    Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?

    <p>Merosin deficient Congenital Muscular Dystrophy Type 1A (MDC1A)</p> Signup and view all the answers

    Which of the following is a key clinical feature shared between multi-mini core disease (MMCD) and rigid spine syndrome?

    <p>Rigid spine and respiratory muscle involvement</p> Signup and view all the answers

    What is the primary gene mutation associated with Walker Warburg Syndrome?

    <p>POMT1</p> Signup and view all the answers

    Which of the following is a key clinical feature of Muscle-Eye-Brain disease caused by POMGnT1 mutations?

    <p>Secondary deficiency of merosin and alpha-dystroglycan</p> Signup and view all the answers

    What is the primary function of the Selenoprotein N protein, which is mutated in Selenoprotein N-related disorders?

    <p>Calcium homeostasis and oxidative stress response</p> Signup and view all the answers

    Which of the following is a characteristic histopathological feature of Collagen VI muscular dystrophies, such as Bethlem myopathy and Ullrich Congenital Muscular Dystrophy?

    <p>Increased endomysial connective tissue</p> Signup and view all the answers

    Which of the following dystroglycanopathies is associated with the most severe clinical phenotype, including early onset, brain malformations, and eye abnormalities?

    <p>Walker Warburg Syndrome</p> Signup and view all the answers

    Which gene is typically mutated in patients with Muscle-Eye-Brain disease?

    <p>POMGnT1</p> Signup and view all the answers

    Which of the following conditions is associated with both multi-mini core disease (MMCD) and rigid spine syndrome?

    <p>Selenoprotein N disorders</p> Signup and view all the answers

    What is a key histological feature that distinguishes Collagen VI muscular dystrophies, such as Bethlem myopathy and Ullrich Congenital Muscular Dystrophy?

    <p>Abnormal scarring</p> Signup and view all the answers

    Which type of Congenital Muscular Dystrophy is associated with white matter changes on cerebral MRI?

    <p>Merosin-deficient Congenital Muscular Dystrophy Type 1A (MDC1A)</p> Signup and view all the answers

    Which type of muscular dystrophy is associated with hypoglycosylation of $\alpha$-dystroglycan?

    <p>Dystroglycanopathies</p> Signup and view all the answers

    What is a key clinical feature shared between multi-mini core disease (MMCD) and rigid spine syndrome?

    <p>Contractures</p> Signup and view all the answers

    Which of the following is NOT considered a lower incidence dystroglycanopathy?

    <p>Bethlem Myopathy</p> Signup and view all the answers

    Which of the following genes is associated with Muscle-Eye-Brain disease and Walker-Warburg syndrome?

    <p>POMGnT1</p> Signup and view all the answers

    What is the primary function of the Selenoprotein N (SEPN1) gene?

    <p>Encoding a protein involved in the synthesis of selenoproteins</p> Signup and view all the answers

    Which of the following is a characteristic feature of Collagen VI muscular dystrophies, such as Bethlem myopathy?

    <p>Proximal muscle weakness and contractures</p> Signup and view all the answers

    Which of the following disorders is associated with defective glycosylation of alpha-dystroglycan?

    <p>Dystroglycanopathies, including Fukuyama CMD and LGMD2I</p> Signup and view all the answers

    Which of the following genes is associated with Walker-Warburg syndrome, a severe form of congenital muscular dystrophy with brain and eye abnormalities?

    <p>FKRP</p> Signup and view all the answers

    Which of the following is a characteristic feature of Dystroglycanopathies, such as Fukuyama congenital muscular dystrophy and LGMD2I?

    <p>Abnormal glycosylation of alpha-dystroglycan</p> Signup and view all the answers

    Which type of muscular dystrophy is caused by a CCTG expansion in intron 1 of the zinc finger protein ZNF9 gene?

    <p>Myotonic Dystrophy type 2 (DM2)</p> Signup and view all the answers

    What is the primary clinical feature of Myotonic Dystrophy type 2 (DM2)?

    <p>Progressive muscle wasting and weakness with myotonia</p> Signup and view all the answers

    What is the most common genetic cause of Facioscapulohumeral dystrophy (FSHD)?

    <p>Deletion in the D4Z4 repeating sequence on chromosome 4q35</p> Signup and view all the answers

    Which of the following is a characteristic feature of the clinical presentation in Myotonic Dystrophy type 1 (DM1)?

    <p>Long face with mournful expression</p> Signup and view all the answers

    What is a key difference between Myotonic Dystrophy type 1 (DM1) and Myotonic Dystrophy type 2 (DM2) in terms of disease progression?

    <p>DM2 exhibits greater anticipation compared to DM1</p> Signup and view all the answers

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