Muscular Dystrophies & Spinal Muscular Atrophy Practice Test

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• How are SMA types classified, and what is characteristic of SMA type 1?
• What is SMA type 4, and when does it typically present?
• Which SMA therapy is administered orally?
• How do LGMDs typically present compared with Duchenne in terms of muscle involvement?
• Becker muscular dystrophy differs from Duchenne muscular dystrophy mainly in which way?
• Early ambulatory stage interventions to prevent fatigue include which of the following?
• To stay consistent with CM guidelines, the recommended approach to exercise is to...
• What imaging modality helps map patterns of muscle involvement in muscular dystrophy?
• Name an approved exon-skipping therapy for Duchenne muscular dystrophy and the exon it targets.
• In SMA, SMN2 copy number acts as a genetic modifier; how does copy number generally relate to disease severity?
• Describe the difference in dystrophin levels and clinical onset between Becker and Duchenne.
• Which statements describe medical interventions for DMD?
• In the context of muscular dystrophies and SMA, which statement best describes the role of genetic counseling?
• Which test assesses endurance and distance walked in Duchenne muscular dystrophy?
• What is the hallmark molecular basis of SMA?
• Which CK level is most indicative of substantial muscle injury in the context of DMD, prompting further testing?
• What best describes neuromuscular diseases?
• Name non-muscle systemic features commonly associated with DM1.
• Which feature is most characteristic at presentation in Duchenne muscular dystrophy?
• Which statement correctly describes Nusinersen?
• Which of the following are common muscular dystrophies in pediatrics?
• What is the potential role of serum metabolite levels in DMD management?
• Becker muscular dystrophy is characterized by which of the following?
• In myotonic dystrophy type 1, non-skeletal complications requiring monitoring most include which?
• Describe the administration routes for the three approved SMA disease-modifying therapies.
• What genetic mechanism causes myotonic dystrophy type 1 (DM1)?
• In managing exercise and mobility for patients with CMs, what should the program primarily focus on?
• Which specialties are commonly involved in SMA management?
• Which statement best describes the genetic basis behind SMA?
• Which statement describes the main caution during exercise for CM patients?
• Which compensatory strategy is commonly seen in the early ambulatory stage of DMD?
• Which of the following statements about NSAA is true?
• Which is a late ambulatory stage intervention?
• Which assessment tool is used for infants with type I SMA?
• NOT a clinical milestone of the early ambulatory stage?
• Which statement describes ROM and night bracing in the late ambulatory stage?
• What is the goal of physical therapy in the early nonambulatory stage?
• Which statement best describes congenital muscular dystrophy?
• Which topic is typically covered in genetic counseling for muscular dystrophies and SMA?
• Nusinersen mechanism: which statement best describes how it works?
• What are congenital myopathies?
• Which is a clinical milestone of the early ambulatory stage?
• Which practice aligns with CM exercise guidelines?
• A CM patient should primarily aim to...
• Calf pseudohypertrophy is a classic sign of which muscular dystrophy?
• Which measure is used to predict loss of ambulation in DMD (alternative formulation)?
• With modern management, how long are people with DMD living?
• What best describes Type III SMA (Kugelberg-Welander)?
• What genetic test result confirms SMA suspicion besides SMN1 deletion?
• Onasemnogene abeparvovec mechanism: which statement is correct?
• What cardiac conduction defect is commonly seen in DM1?
• Which of the following is NOT part of PT interventions for the early nonambulatory stage of DMD?
• In congenital myopathies, weakness is typically
• Which factors are used to classify muscular dystrophies?
• Dystrophin deficiency leads to loss of sarcolemma stability due to frameshift deletions; which statement is true about the dystrophin protein in this scenario?
• What is the average delay from parental concern to diagnosis for Duchenne muscular dystrophy?
• Corticosteroids in DMD management have which effect?
• A safe approach to exercise in CM patients should emphasize...
• What is the most common genetic cause of Duchenne muscular dystrophy?
• Which genetic test can confirm SMA suspicion when SMN1 deletion is not found?
• In a supine-to-stand test, a time greater than how many seconds predicts loss of ambulation within 12 months?
• Duchenne muscular dystrophy is caused by what genetic abnormality?
• Which intervention focuses on respiratory support in the late nonambulatory stage?
• Name the three approved disease-modifying therapies for SMA and their basic mechanism.
• Which SMA disease-modifying therapy is delivered intravenously as a gene therapy?
• In SMA PT management, what is the role of orthoses and adaptive equipment?
• In myotonic dystrophy type 1, non-skeletal complications requiring monitoring most include which?
• Which of the following is a clinical red flag for SMA?
• Which measure can be used to predict loss of ambulation in DMD?
• What causes SMA?
• Is resistance training safe with SMA?
• What provides definitive confirmation of a DMD diagnosis?
• Which of the following is not a reason to start SMA treatment early?
• What are the key histopathological features of Duchenne muscular dystrophy on muscle biopsy?
• Which concept should guide exercise programming for CMs?
• Which statement best describes the initial pattern of muscle involvement in Duchenne muscular dystrophy?
• Which of the following is NOT a standard nonpharmacologic management strategy for SMA?
• What EMG pattern is typical of SMA?
• What is the typical onset and walking ability for SMA type 2?
• What respiratory management strategies are important for MD/SMA patients with poor cough?
• List key nonpharmacologic management strategies for SMA.
• What is the primary role of genetic counseling in muscular dystrophy and SMA?
• Cardiomyopathy in Duchenne tends to occur in which time frame?
• Facioscapulohumeral muscular dystrophy typically presents with which features?
• Which statement best describes Duchenne muscular dystrophy?
• Which description best fits Type III SMA?
• Why is proactive planning crucial for the transition to nonambulatory status in DMD?
• Which therapy is the standard disease-modifying treatment used to slow progression in Duchenne muscular dystrophy?
• Which imaging modality is used to monitor fat fraction changes in muscle tissue in DMD?
• Which histologic or biochemical finding on muscle biopsy supports a dystrophinopathy?
• Which of the following is a compensatory strategy in the early ambulatory stage?
• What is the mechanism of Duchenne muscular dystrophy?
• In the preclinical stage of DMD, stretching should focus on which muscle groups?
• Duchenne muscular dystrophy is inherited in an X-linked pattern; which statement is true?
• What is muscular dystrophy?
• What are the types of pharmacological strategies used to treat SMA?
• Which statement is correct about exercise for CM patients?
• Which transfers require maintaining strength in shoulder depressors and triceps?
• How do Duchenne and Becker muscular dystrophy differ at the molecular level and in clinical course?
• What is Gower's sign?
• Calf pseudohypertrophy in Duchenne muscular dystrophy is best described as
• Which statement describes SMN2's role in SMA?
• Which biomarker is typically markedly elevated in Duchenne muscular dystrophy and aids in diagnosis?
• What are characteristics of congenital muscular dystrophy?
• How often is reassessment of DMD (e.g., ROM, MMT) recommended?
• Emery-Dreifuss muscular dystrophy is distinguished by involvement of which systems?
• What is the functional impact of SMA?
• When designing a mobility plan for CM patients, you should...
• If a mother is a carrier of the DMD gene, what is the risk to her son?
• A 10-meter walk test result of greater than how many seconds predicts loss of ambulation within 12 months?
• What is the pattern of inheritance for myotonic dystrophy?
• Which statement about calf pseudohypertrophy in Duchenne is true?
• Which of the following are part of the clinical presentation of congenital myopathies?
• What is the goal of pharmacological strategies in SMA?
• Which blood tests can help diagnose Duchenne muscular dystrophy?
• How has DMD progressed in the late nonambulatory stage?
• Which is a common caution when prescribing exercise for patients with CMs?
• Which of the following is a benefit of wheelchair use with DMD?
• Which clinical sign indicates proximal weakness in Duchenne and is classically observed when rising from the floor?
• For CM patients, the primary objective of exercise and mobility is to...
• How are muscular dystrophies classified?
• Which type of exercises should be avoided in DMD?
• What genetic abnormality causes facioscapulohumeral muscular dystrophy type 1 (FSHD1)?
• In myotonic dystrophy type 1, non-skeletal complications requiring monitoring most prominently include:
• What is the starting point for diagnosis of Duchenne muscular dystrophy?
• In genetic counseling for muscular dystrophies and SMA, which topic is typically discussed?
• Risdiplam mechanism: which statement is accurate?
• In SMA, disease severity is determined by what?
• FSHD1 pathophysiology involves contraction of repeats on chromosome 4q35 leading to misexpression of which gene?
• Which statement describes the CNS involvement in congenital myopathies?
• Which outcome best explains Duchenne muscular dystrophy pathology?
• What is the goal of the preclinical stage?
• What is Type I SMA (Werdnig-Hoffmann) characterized by?
• Nusinersen, approved in 2016, is an example of which therapy category?
• Which of the following is NOT a typical PT intervention for SMA?
• Which statement best describes the common management for Duchenne scoliosis in practice?
• An affected son with unaffected parents most likely demonstrates which inheritance pattern?
• Which feature is most characteristic of limb-girdle muscular dystrophy?
• The NSAA assesses functional ability including which movements?
• Which statement describes Type II SMA?
• Duchenne muscular dystrophy most commonly presents in which age range?
• The standards of care for DMD are divided into how many major stages?
• What orthopedic complications are common in Duchenne and how are they managed?
• What is the maximum NSAA score?
• The DMD gene is located on which chromosome?
• Which description best reflects the targeting of mobility planning in CM care?
• What does genetic testing identify in DMD?
• What MRI pattern is commonly seen in Duchenne muscular dystrophy?
• Why is early treatment particularly important in SMA?
• Emery-Dreifuss muscular dystrophy commonly affects which systems?
• SMA is traditionally classified based on age of onset and motor milestones into which categories?
• How is SMA diagnosed definitively?
• In the context of ultrasound assessment for DMD, which statement is correct?
• Which statement about dystrophin is true?
• Which gene is essential for motor neuron health and involved in SMA?
• Which activity is included as a PT intervention for early nonambulatory DMD?
• With DMD, what is crucial for prolonging function?
• Duchenne muscular dystrophy can include which of the following systemic features?
• In Duchenne, which proximal muscles are typically involved earliest on MRI?
• What is the inheritance pattern of Duchenne muscular dystrophy?
• What are the leading cardiopulmonary complications and their typical time course in Duchenne?
• Which of the following is a recommended approach to resistance training in SMA?
• When counseling CM patients about activity, which point should you emphasize?
• What is the guiding principle in physical therapy management of SMA?
• Limb-girdle muscular dystrophy classically presents with which feature?
• Which topic should be included in caregiver education for Duchenne muscular dystrophy (DMD)?
• Which assessment tool is specifically used to evaluate upper limb function in SMA?
• In DMD patients, what is a use of MRI/MRS?
• What is the pathophysiologic consequence of dystrophin deficiency on muscle membranes?
• Calf pseudohypertrophy reflects fat and fibrofatty replacement rather than true hypertrophy in Duchenne. Which option is correct?
• The presence of calf pseudohypertrophy in a boy with early weakness most strongly suggests which diagnosis?
• Which statement about SMA prognosis and treatment is true?
• What is an important precaution for physical therapy with patients who have SMA?
• In Duchenne, how and when should cardiomyopathy be screened?
• Which laboratory test is typically markedly elevated in Duchenne and other muscular dystrophies?
• In Duchenne, what tissue replaces necrotic muscle fibers?
• Which is a late ambulatory stage milestone?
• Gene-based therapies in DMD aim to achieve which?
• What are some goals of PT management of CMs?
• In SMA, what is the purpose of newborn screening and what does it test for?
• Which functional assessments can be used in the ambulatory stage?
• Which statement about SMA therapies is accurate?
• Which of the following is a caution during exercise for CM patients?
• What is the key distinction between autosomal dominant LGMD (LGMD1) and autosomal recessive LGMD (LGMD2) in inheritance?
• What are the systemic effects of Duchenne muscular dystrophy?
• How does SMN2 copy number influence SMA severity, and why?
• How do exon-skipping therapies for DMD work mechanistically?
• In the preclinical stage of DMD, which type of exercise is recommended?
• What is the key distinction of CMs compared to muscular dystrophies (DMD, SMA)?
• How many items are on the North Star Ambulatory Assessment (NSAA)?
• Which gene is primarily responsible for spinal muscular atrophy and is deleted or mutated in most patients?
• Which muscles are important to maintain strength in during the early nonambulatory stage?
• What does an increase in fat fraction signify in MRI/MRS for DMD?
• What is considered a clinically significant change on the 6-minute walk test?
• Duchenne muscular dystrophy is caused by mutations in which gene leading to deficiency of which protein?
• Which laboratory finding commonly supports dystrophinopathy alongside dystrophin testing?
• Duchenne muscular dystrophy typically loses the ability to walk at what approximate age?
• Which test measures upper extremity function in Duchenne muscular dystrophy?
• How early on should power mobility be introduced for sitters with SMA?
• Which MRI/MRS measurement reflects disease progression in DMD?
• Which protein is deficient in Duchenne muscular dystrophy and what is its role in sarcolemma stability?
• What are the three major stages in DMD standards of care?
• Which test measures lower extremity function in Duchenne muscular dystrophy?
• Which scale assesses ADLs in the non-ambulatory stage of Duchenne muscular dystrophy?
• Which of the following is not a goal of genetic counseling for muscular dystrophies and SMA?
• SMA type 3's typical onset and functional pattern?
• Which statement best describes the recommended focus for exercise and mobility in CM patients?
• What is the typical initial genetic testing strategy for suspected DMD/Becker?
• In the late ambulatory stage, which intervention addresses respiratory issues?
• What is spinal muscular atrophy (SMA)?