Muscular Dystrophy (MD) Practice Test

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• Which of the following are early signs of Duchenne MD?
• The incidence statement 'Approximately 1 in 5,000 individuals' corresponds to which heading?
• EMG evaluates what?
• Which procedure examines muscle tissue structure?
• In congenital muscular dystrophy, when do symptoms typically present and what brain findings may accompany them?
• How does OT promote engagement in daily life as MD progresses?
• Which test confirms the type of muscular dystrophy?
• DM2 is associated with a repeat expansion in which gene?
• Calf pseudohypertrophy in Duchenne muscular dystrophy is primarily due to replacement of muscle by which tissues?
• Myotonic Dystrophy commonly involves which body systems beyond skeletal muscles?
• Which respiratory issue is common in muscular dystrophy due to weakness?
• Gower's sign indicates weakness in which muscle group?
• Life expectancy in DMD tends to be which range?
• In MD, cognition is typically what?
• DMD onset around which age?
• Which principle best describes the OT role across the lifespan in muscular dystrophy?
• DMD progression is best described as which of the following?
• LGMD2I is autosomal recessive and caused by mutations in which gene?
• In MD, muscle tissue is replaced with which tissues?
• Which marker is elevated in muscular dystrophy due to muscle damage?
• Which dystrophy is associated with distal weakness including the face and forearms?
• Gower's sign is demonstrated by which action?
• Which is a key characteristic of muscular dystrophy?
• BMD stands for which condition?
• Nutrition concerns in muscular dystrophy commonly include?
• What best describes the primary problem in Muscular Dystrophy (MD)?
• DMD is caused by the absence of which protein?
• Which condition is characterized by early contractures before weakness?
• To support participation across the lifespan, OT should ?
• What describes the progression of functional mobility from walking to power mobility?
• Becker Muscular Dystrophy typically has which onset and progression profile compared with Duchenne?
• Which forms of muscular dystrophy are listed as examples in the material?
• Becker Muscular Dystrophy onset occurs during which life period?
• Which category includes gene therapy and exon skipping?
• Which gene mutation causes Duchenne and Becker muscular dystrophy, and what is the encoded protein?
• Which is the most common and severe form of muscular dystrophy?
• Which statement best describes the role of multidisciplinary MD clinics?
• What pattern of inheritance is typical for DM1?
• Which factor contributes to respiratory complications in muscular dystrophy?
• LGMD type 1 is inherited as what?
• Around what age do individuals with Duchenne muscular dystrophy typically become wheelchair-dependent?
• A core OT outcome in MD is ?
• Common symptoms of MD?
• Which statement describes barriers to education as physical (fatigue, access), not cognitive?
• Early objective of OT in muscular dystrophy is to ?
• Name an FDA-approved exon-skipping therapy for DMD and its target exon.
• What term describes a group of hereditary neuromuscular disorders characterized by progressive muscle weakness and degeneration?
• Which class of medications is commonly used in Duchenne cardiology management when indicated?
• Which statement best describes the aim of therapy in muscular dystrophy?
• How does genetic testing inform family planning in X-linked muscular dystrophy?
• Which of the following are common complications of DMD?
• Which gene is mutated in DM1?
• At what age range does Duchenne usually present?
• Which condition is commonly associated with early onset in boys and rapid progression?
• Which biomarker is markedly elevated in most dystrophinopathies during childhood?
• Which statement is true about DMD onset and progression?
• MD pathology includes replacement of muscle with fat and connective tissue. What is this process called?
• Pain in muscular dystrophy is often due to which factors?
• What test is considered the most definitive for establishing the precise muscular dystrophy subtype?
• Which mutation type tends to cause absent or severely reduced dystrophin in DMD?
• LAMA2-related congenital muscular dystrophy is associated with what pattern on brain MRI?
• Which statement correctly describes the inheritance patterns of FSHD1 and LGMD2I?
• Which congenital muscular dystrophy is caused by LAMA2 mutations and presents with hypotonia in infancy and brain MRI abnormalities?
• The absence or deficiency of which protein underlies Duchenne muscular dystrophy?
• Which noninvasive intervention is often required to manage sleep-disordered breathing in advanced DMD?
• FSHD1 is associated with a permissive haplotype at which genomic locus?
• Which item is considered adaptive equipment in muscular dystrophy?
• Which muscular dystrophy is characterized by myotonia and progressive weakness with autosomal dominant inheritance?
• In Pompe disease, which biomarkers may be elevated?
• LGMD stands for which condition?
• Adaptive equipment in muscular dystrophy commonly includes which of the following?
• In Becker Muscular Dystrophy, which describes the functional outcome?
• What is the primary goal of medical management in muscular dystrophy?
• What is the typical inheritance pattern for FSHD1?
• Distal weakness pattern involving face, hands, and forearms is characteristic of which dystrophy?
• What orthotic/therapy approach is recommended to delay scoliosis and maintain mobility in DMD?
• Which of the following is a common symptom cluster of MD?
• Which muscular dystrophy is classically associated with scapulohumeral weakness and facial weakness due to D4Z4 repeat contraction on 4q35?
• Incidence of muscular dystrophy?
• How are LGMDs subclassified by inheritance?
• Pseudohypertrophy occurs due to replacement by which types of tissue?
• What is the most common fatal muscular dystrophy beginning in early childhood, and what is its inheritance pattern?
• Which muscular dystrophy is associated with facial weakness and winged scapula?
• The course of muscular dystrophy is best described as:
• Which term best describes the overall progression of mobility in MD?
• What is the rationale for multidisciplinary MD clinics?
• Golodirsen is an exon-skipping therapy for DMD. Which exon does it target?
• Which protein stabilizes muscle fibers during contraction and is implicated in MD when deficient?
• What diagnostic test is most definitive for identifying a specific muscular dystrophy subtype?
• If initial deletion/duplication analysis is negative, what is the next step in molecular testing for DMD?
• Which statement best describes the order of muscle involvement in DMD?
• Which psychosocial domain includes grief, depression, and loss of independence?
• What disease-modifying therapy slows disease progression in DMD and requires monitoring for side effects?
• Which phenomenon explains why DM1 can become more severe in successive generations?
• LGMD type 2 is inherited in which pattern?
• Which description reflects ADL impact in MD when increasing assistance is needed over time?
• Myotonic Dystrophy systemic involvement includes which combination of organ systems?
• Nonpharmacologic strategies essential to maintain respiratory function in muscular dystrophy?
• Which feature is a key EDMD characteristic?
• Which symptom is among the early signs of DMD?
• Limb-Girdle Muscular Dystrophy typically shows weakness in which pattern?
• How does serum CK change over the course of muscular dystrophy progression?
• Which dystrophy is caused by contraction of D4Z4 repeats on 4q35 and is inherited in an autosomal dominant fashion?
• What is the effect on muscle fibers when dystrophin is deficient?
• What is a typical early hallmark of LAMA2-related congenital muscular dystrophy?
• What best describes the impact on work due to endurance and physical demands?
• Which statement best reflects a compensation strategy in MD OT?
• How does Becker muscular dystrophy differ from Duchenne in dystrophin expression?
• What factor contributes to skin integrity risk in muscular dystrophy?
• How is DMD typically confirmed at the molecular level?
• What outcomes are prioritized in MD management to improve quality of life?
• Duchenne and Becker share which inheritance pattern?
• Delayed muscle relaxation after contraction is called?
• In MD OT, what is the 'Big OT question'?
• What sign indicates difficulty rising from the floor in boys with DMD?
• Which imaging modality helps map muscle involvement and guide biopsy in muscular dystrophy?
• What is the major cardiac complication risk in DMD?
• LGMD2I is caused by mutations in which gene?
• OT takeaway in MD describes which concept?
• Viltolarsen targets which exon in the DMD gene?
• The Pompe disease therapy replaces which deficient enzyme?
• What is the typical appearance of the calves in DMD, and what causes it?
• What is the milder form of Duchenne Muscular Dystrophy characterized by partial dystrophin expression?
• In muscular dystrophy, what is the late-stage focus of occupational therapy?
• Weakness in DMD follows which pattern?
• Which dystrophy primarily affects hip and shoulder muscles (the proximal girdle)?
• In myotonic dystrophy type 1, cataracts typically develop how?
• What therapy is specifically used for Pompe disease to replace the deficient enzyme?
• Which statement describes barriers to education in MD?
• Which muscular dystrophy is commonly associated with early-onset cataracts and distal involvement in some forms?
• Why is genetic counseling important for families affected by muscular dystrophy?
• FSHD key signs include which finding?
• What treatment slows muscle damage and can temporarily improve strength in MD?
• Leisure adaptation in MD often involves which change?
• Compared with Duchenne, Becker muscular dystrophy typically has which characteristic regarding onset and severity?
• Which assessment confirms the subtype of muscular dystrophy?
• In MD, cognition is typically characterized as which of the following?
• DM2 (proximal myotonic myopathy) is caused by which genetic mechanism?
• What is a key clinical takeaway for OT management in muscular dystrophy?
• In most dystrophinopathies, which muscle groups are affected earliest?
• An investigational approach aiming to improve dystrophin-like function without delivering dystrophin itself is known as what?
• DMD stands for which condition?
• Which domain describes the impact on daily living activities as assistance increases?
• The limb-girdle muscular dystrophies (LGMD) are primarily characterized by weakness in which muscle groups?
• Which muscular dystrophy commonly requires respiratory support and airway clearance strategies as part of standard care?
• CK levels in MD are?
• FSHD progression is described as which?
• Which approach includes contracture release, scoliosis correction, pacemaker placement?
• What enzyme deficiency causes Pompe disease?
• Late-stage OT objective includes ?
• What is the role of corticosteroids in DMD management and a key consideration in care?
• Therapy aims in muscular dystrophy include?
• Which MD types are described as most common seen in occupational therapy?
• Becker Muscular Dystrophy is best described by which dystrophin status?
• What is a primary goal of physical therapy in muscular dystrophy?
• FSHD1 contraction is located on which chromosome region?
• Which domain includes grief, depression, and loss of independence?
• Diagnosis of MD is based on?
• What is the primary early goal of occupational therapy in muscular dystrophy?
• Which statement best describes diagnosing MD?
• Pseudohypertrophy in DMD refers to enlargement of which muscles due to fat and connective tissue replacement?
• How do congenital muscular dystrophies typically present compared with later-onset muscular dystrophies?
• Which statement best describes 'adapt tasks' in OT for muscular dystrophy?
• What is the hallmark feature of Pompe disease in infants?
• Limb-Girdle Muscular Dystrophy commonly presents with weakness in which region?
• FSHD stands for which muscular dystrophy?
• MD affects which muscle groups?
• Which is a standard component of cardiology surveillance and management in DMD?
• Which strategy best aligns with the principle of keeping the person engaged for as long as possible?
• Which option would be least aligned with the OT role in muscular dystrophy?
• What is the main treatment for Pompe disease?
• What is the name of the congenital muscular dystrophy commonly associated with merosin deficiency?
• Which approach best reflects ongoing, lifespan-oriented OT in MD?
• What is a common respiratory complication in advanced DMD requiring ongoing management?
• Compared to Duchenne Muscular Dystrophy, Becker Muscular Dystrophy typically has which progression pattern?
• What genetic mechanism causes DM1?