Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content ++ Childhood pseudohypertrophic muscular dystrophyAdult pseudohypertrophic muscular dystrophyDuchenne muscular dystrophyBecker’s muscular dystrophyBenign X-linked recessive muscular dystrophy ++ 359.0 Congenital hereditary muscular dystrophy359.1 Hereditary progressive muscular dystrophy ++ G71.0 Muscular dystrophyG71.2 Congenital myopathies ++ 5E: Impaired Motor Function and Sensory Integrity Associated with Progressive Disorders of the Central Nervous System +++ Description ++ Group of genetic disorders that result in progressive muscle weakness due to loss of myofibrilsCauses defects in muscle proteins: weakens the musculoskeletal systemMuscle cell and tissue death +++ Essentials of Diagnosis ++ Nine major types of muscular dystrophyDiagnosed through molecular characteristicsDiagnosis is dependent on Age of patient at onset of symptomsAreas of body involvedRate of progression of symptoms +++ General Considerations ++ Duchenne MD (type I)Symptoms begin around 3 to 5 years of ageCharacterized by pseudohypertrophy of calvesProgresses quicklyBecker’s MD (type II)Symptoms begin around 11 years of ageCharacterized by muscle weakness of shoulder girdle, trunk, and extremitiesProgresses slowlyCongenital muscular dystrophiesCongenital MD with central nervous system disease (Fukuyama syndrome, Walker-Warburg syndrome, muscle-eye-brain-disease)Integrin-deficient congenital MDMerosin-deficient congenital MDCongenital MD with normal merosinSymptoms begin at birthCharacterized by hypotonia and contractures at birthProgresses slowly but variesCongenital myotonic MDSymptoms begin at birthCharacterized by severe hypotonia and muscle weakness at birthProgresses slowlyCognitive impairment presentChildhood-onset facioscapulohumeral MDSymptoms begin by 2 to 10 years of ageCharacterized by muscle weakness of face and shoulder girdleProgresses slowlyEventually becomes non-ambulatoryEmery-Dreifuss (humeroperoneal) MDSymptoms begin prior to teenage yearsCharacterized by contractures of posterior cervical muscles, biceps, and plantar flexorsProgresses slowly, but often cardiac involvementLimb-girdle MDSymptoms begin during teen years to adulthoodCharacterized by muscle weakness of the shoulder and pelvic girdlesProgresses slowly +++ Demographics ++ Duchenne MD: 1:3500 malesBecker’s MD: 1:20,000 birthsCongenital myotonic MD: 1:8000 birthsChildhood-onset facioscapulohumeral MD: 3 to 10 per 1,000,000 birthsEmery-Dreifuss MD: rare +++ Signs and Symptoms ++ FatigueComplaint of muscle cramps (Becker’s)Progressive weakness and atrophy of involved musclesFasciculations (of tongue)DysphagiaDysarthriaContractures at birth (congenital and congenital myotonic forms of MD)ScoliosisCognitive impairmentLearning disabilities (Duchenne and Becker’s)Waddling gaitInability to runInability to jumpGower’s signDifficulty stair climbingToe walkingFallsDecreased maximal vital capacityScapular wingingClubfoot (talipes equinovarus) +++ Functional Implications ++ Progressive dependence for assistance with activities of daily livingEasily fatiguedLoss of mobility +++ Possible Contributing Causes2,3 ++ Duchenne, Becker’s and Emery-Dreifuss MDs are X-linked recessive diseases resulting in an inability to use dystrophin that is important to the sarcolemmaCongenital MD is autosomal ... Your Access profile is currently affiliated with '[InstitutionA]' and is in the process of switching affiliations to '[InstitutionB]'. Please click ‘Continue’ to continue the affiliation switch, otherwise click ‘Cancel’ to cancel signing in. Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Username Error: Please enter User Name Password Error: Please enter Password Forgot Password? Forgot Username? Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free a profile for additional features.