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Medicine

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Neurology

Question
7 out of 19
 

Inverted Champaign bottle muscle atrophy occurs in:



A Peroneal muscular atrophy

B Duchenne's muscular dystrophy

C rogressive muscular atrophy

D Amotrophic lateral stenosis

Ans. A

Peroneal muscular atrophy

Muscular dystrophies

Types of muscular dystrophies

1). Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder.

a. Although distal muscles are eventually affected as well, patients experience initial pro­gressive proximal muscular weakness.

b. Prednisolone treatment slows progression of weakness.

c. Death usually occurs in the third decade of life, often as a result of pneumonia.

Extra Edge: In Duchenne muscular dystrophy (DMD) (AIIMS Nov 2010)

1). Pseudohypertrophy of the calf muscles occurs.

2). Dystrophin gene mutation occurs.

3). Gower sign is positive.

4). Sarcolemmal protein defect occurs.

5). Cardiomyopathy can occurs.

2). Becker's muscular dystrophy (BMD) is an X-linked recessive disorder of muscle. Patients with BMD have a more benign course than those with DMD, With a 50% survival rate beyond age 50.

3). Myotonic Muscular Dystrophy (Ref. Hari- 18th ed., pg- 3496)

a. Affected patients have a typical "hatchet-faced" appearance due to temporalis, masseter, and facial muscle atrophy and weakness.

b. Characteristic muscle myotonia (i.e., persistent muscle activity in response to contraction or percussion).

c. Distal weakness, cataracts, impaired intellect, hypersomnia, testicular atrophy, cardiomyopathy, mitral valve pro­lapse, and cardiac conduction defects.

d. Frontal baldness is also characteristic of the disease.

e. Death occurs in the fifth or sixth decade and typically is attributable to respiratory com­promise or cardiac arrhythmia.

4). Facioscapulohumeral muscular dystrophy is an autosomal dominant disorder character­ized by progressive weakness about the face, neck, upper torso, and proximal arms.

5). Limb-girdle muscular dystrophy is actually a group of autosomal dominant and recessive dis­orders characterized by progressive loss of motor strength of the trunk and proximal limbs.

Table: The muscular dystrophies

Disorder

Inheritance

Age at onset (yrs)

Distribution

Prognosis

Duchenne type

X-linked recessive

1-5

Pelvic, then shoulder girdle; later, limb and respiratory muscles.

Rapid progression. Death within about 15 years after onset

Becker

X-linked recessive

5-25

Pelvic, then shoulder girdle

Slow progression. May have normal life span

Limb-girdle (Erb)

Autosomal recessive, dominant or sporadic

10 – 30

Pelvic or shoulder girdle initially, with later spread to the other

Variable severity and rate of progression. Possible severe disability in middle life

Facioscapulohumeral

Autosomal dominant

Any age

Face and shoulder girdle initially; later, pelvic girdle and legs

Slow progression. Minor disability. Usually normal life span

Deafness coat’s eye disease

(Ref. Hari-18th ed., pg. 2682)

Congenital myopathy (AIIMS May 2011) (Ref. Hari-18th ed., pg- 3496)

1). Central core

2). Nemaline

3). Central nuclear

Neurology Flashcard List

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