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Duchenne Muscular Dystrophy

Aka: Duchenne Muscular Dystrophy
  1. See Also
    1. Muscular Dystrophy
    2. Myopathy Causes
    3. Muscle Weakness in Children (Pediatric Neuromuscular Disorders)
    4. Developmental Coordination Disorder (Clumsiness in Children)
  2. Epidemiology
    1. Exclusively affects males
  3. Pathophysiology
    1. X-linked recessive inheritance
  4. Symptoms
    1. Difficulty performing Exercises
      1. Climbing
      2. Running
      3. Jumping
      4. Hopping
  5. Signs
    1. Symmetric, progressive proximal Muscle Weakness
      1. Affects hip and Shoulder girdle
    2. Palpable Muscle enlargement
      1. Initial muscle hypertrophy
      2. Later fat and connective tissue replace muscle
  6. Associated Conditions
    1. Tendon and muscle contractures
    2. Kyphoscoliosis (progressive)
    3. Impaired pulmonary function
    4. Cardiomyopathy
    5. Intellectual Impairment
  7. Course
    1. Age 5 years: Onset of symptoms and signs
    2. Age 8-10 years: Leg braces necessary for ambulation
    3. Age 12 years: Nonambulatory
    4. Age 25 years: Survival rare beyond this point
  8. Labs
    1. Muscle Enzymes elevated
      1. Creatine Phosphokinase (CPK) increased
      2. Aldolase increased
    2. Electromyogram (EMG)
      1. Myopathy
    3. Muscle Biopsy
      1. Necrotic muscle fibers with regeneration
      2. Fatty replacement of muscle
    4. Electrocardiogram (EKG)
      1. Cardiomyopathy
      2. Deep Q waves across precordium
  9. Complications
    1. Respiratory failure
    2. Respiratory infections
    3. Aspiration Pneumonia
    4. Acute gastric dilatation
    5. Congestive Heart Failure
    6. Cardiac arrhythmia
  10. Management
    1. Passive muscle Stretching
    2. Tenotomy
    3. Bracing
    4. Physiotherapy
    5. Mechanical Assistive Devices
    6. Avoid prolonged immobility
  11. Reference
    1. Mendell in Wilson (1991) Harrison's IM, p. 2112

Muscular Dystrophy, Duchenne (C0013264)

Definition (CHV) a kind of inherited disorder, characterized by rapidly-worsening muscle weakness
Definition (CHV) a kind of inherited disorder, characterized by rapidly-worsening muscle weakness
Definition (CHV) a kind of inherited disorder, characterized by rapidly-worsening muscle weakness
Definition (CHV) a kind of inherited disorder, characterized by rapidly-worsening muscle weakness
Definition (CHV) a kind of inherited disorder, characterized by rapidly-worsening muscle weakness
Definition (NCI) An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
Definition (MSH) An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Definition (CSP) X-linked recessive muscle disease caused by an inability to synthesize dystrophin, which is involved with maintaining the integrity of the sarcolemma; muscle fibers undergo a process that features degeneration and regeneration; clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy and an increased incidence of impaired mentation; Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course.
Concepts Disease or Syndrome (T047)
MSH D020388
SnomedCT 267712004, 155095006, 129619006, 76670001, 387732009
English Duchenne Muscular Dystrophy, DMD - Duchenne muscul dystroph, Pseudohypertrph musc dystrophy, DMD, DUCHENNE MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, DUCHENNE TYPE, MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE, Muscular Dystrophy, Duchenne, Duchenne muscular dystrophy (diagnosis), progressive muscular dystrophy (Duchenne), Childhood Muscular Dystrophy, Pseudohypertrophic, Childhood Pseudohypertrophic Muscular Dystrophy, Muscular Dystrophy, Childhood, Pseudohypertrophic, Muscular Dystrophy, Pseudohypertrophic, Childhood, Pseudohypertrophic Childhood Muscular Dystrophy, Pseudohypertrophic Muscular Dystrophy, Childhood, Duchenne-Type Progressive Muscular Dystrophy, Progressive Muscular Dystrophy, Duchenne Type, Muscular Dystrophy, Pseudohypertrophic, Pseudohypertrophic Muscular Dystrophy, Muscular Dystrophy, Duchenne [Disease/Finding], Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type, duchenne's muscular dystrophy, duchenne-griesinger syndrome, x-linked muscular dystrophy, duchenne muscular dystrophy (DMD), duchenne muscular dystrophy, Duchenne Type Progressive Muscular Dystrophy, Cardiomyopathy, Dilated, X-Linked, Muscular Dystrophy, Duchenne Type, Cardiomyopathy, Dilated, 3B, Duchenne musc. dyst., Duchenne muscular dystrophy, Pseudohypertrophic muscular dystrophy, DMD - Duchenne muscular dystrophy, Duchenne muscular dystrophy (disorder), Benign Duchenne muscular dystrophy, dystrophy; Duchenne type, dystrophy; muscular, Duchenne type, motor; neuron, Duchenne, muscular dystrophy; Duchenne, muscular; dystrophy, Duchenne type, Duchenne type; dystrophy, Duchenne-Griesinger, Duchenne; motor neuron disease, Duchenne; muscular dystrophy, Muscular dystrophy, Duchenne
Swedish Muskeldystrofi, Duchenne
Japanese デュシェンヌガタキンジストロフィー, ベッカー筋ジストロフィー, 偽肥大性筋異栄養症, 筋ジストロフィー-ベッカー型, 偽肥大性筋ジストロフィ, Duchenne型筋ジストロフィー, 筋ジストロフィー-デュシェンヌ型, 偽肥大性筋異栄養, デュシェンヌ筋ジストロフィー, Duchenne筋ジストロフィー, 筋ジストロフィー-デュシェンヌ, 筋ジストロフィー-ベッカー, 筋ジストロフィー-Becker型, 筋ジストロフィー-偽肥大性, デュシェンヌ型筋ジストロフィ, デュシェンヌ型筋ジストロフィー, ベッカー型筋ジストロフィー, Becker筋ジストロフィー, 偽肥大性筋ジストロフィー, 筋ジストロフィー-Duchenne型, Becker型筋ジストロフィー
Czech svalová dystrofie pseudohypertrofická, Duchennova svalová dystrofie, Duchennova muskulární dystrofie, progresivní svalová dystrofie Duchennova typu, Duchennova myopatie, Duchenneova svalová dystrofie, svalová dystrofie Duchenneova typu
Finnish Duchennen lihasdystrofia
Russian MYSHECHNAIA DISTROFIIA DIUSHENNA, BEKKERA MYSHECHNAIA DISTROFIIA, DIUSHENNA MYSHECHNAIA DISTROFIIA, MYSHECHNAIA DISTROFIIA PSEVDOGIPERTROFICHESKAIA, БЕККЕРА МЫШЕЧНАЯ ДИСТРОФИЯ, ДЮШЕННА МЫШЕЧНАЯ ДИСТРОФИЯ, МЫШЕЧНАЯ ДИСТРОФИЯ ДЮШЕННА, МЫШЕЧНАЯ ДИСТРОФИЯ ПСЕВДОГИПЕРТРОФИЧЕСКАЯ
Italian Distrofia muscolare pseudoipertrofica dell'infanzia, Distrofia muscolare progressiva tipo Duchenne, Distrofia muscolare pseudoipertrofica, Distrofia muscolare di Duchenne
Polish Dystrofia mięśniowa Duchenne'a, Dystrofia mięśniowa Beckera
Hungarian Duchenne muscularis dystrophia
Norwegian Duchenne muskeldystrofi, Psudohypertrofisk progressiv muskeldystrofi, Morbus Duchenne
Spanish distrofia muscular benigna de Duchenne, Distrofia Muscular Pseudohipertrófica, distrofia muscular de Duchenne (trastorno), distrofia muscular de Duchenne, distrofia muscular pseudohipertrófica, distrofia muscular seudohipertrófica, Distrofia muscular de Duchenne, Distrofia Muscular de Duchenne, Distrofia Muscular Seudohipertrófica
Croatian Mišićna distrofija, Duchenneova
Portuguese Distrofia Muscular do Tipo Duchenne, Distrofia muscular de Duchenne, Distrofia Muscular de Duchenne, Distrofia Muscular Pseudo-Hipertrófica
Dutch Duchenne-type; dystrofie, Duchenne; motorische-neuronziekte, Duchenne; spierdystrofie, dystrofie; Duchenne-type, dystrofie; spier, Duchenne-type, motorisch; neuron, Duchenne, spier; dystrofie, Duchenne-type, spierdystrofie; Duchenne, Duchenne-spierdystrofie, Dystrofie, Duchenne-spier-, Spierdystrofie, Duchenne-, Spierdystrofie, pseudohypertrofische
German Duchenne Muskeldystrophie, Duchenne-Muskeldystrophie, Muskuläre Dystrophie, Duchenne, Muskuläre Dystrophie, pseudohypertrophische
French Dystrophie musculaire progressive de Duchenne, Maladie de Duchenne, Dystrophie musculaire de Duchenne, DMD (Dystrophie Musculaire de Duchenne), Dystrophie musculaire pseudo-hypertrophique, Dystrophie musculaire pseudohypertrophique, Myopathie de Duchenne, Myopathie pseudo-hypertrophique de Duchenne de Boulogne, Myopathie pseudohypertrophique de Duchenne de Boulogne, Paralysie pseudohypertrophique type Duchenne
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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