Genetics of Muscular Dystrophies Overview

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

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

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

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

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

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

Which type of mutations can cause muscular dystrophies?

What is the most common form of muscular dystrophy?

Which muscular dystrophy is related to dystrophin?

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

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

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

What is the primary function of the dystrophin protein?

What is the approximate incidence of Duchenne muscular dystrophy?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

What is the primary genetic cause of LGMD 1A?

Which clinical feature is commonly associated with LGMD 1B?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Which gene is mutated in LGMD2B (Miyoshi Myopathy)?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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