Question:
Which of the following is NOT a congenital myopathy?
Which of the following is NOT a congenital myopathy?
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Central core, nemaline, and centronuclear myopathy are the classic congenital myopathy triad; Z band (myofibrillar) myopathy is a separate, usually adult-onset group.
Updated On: Jul 8, 2026
- Central Core Disease
- Nemaline Myopathy
- Centronuclear Myopathy
- Z Band Myopathy
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The Correct Option is D
Solution and Explanation
Step 1: Recall the classic congenital myopathies.
Congenital myopathies are a group of inherited muscle disorders that present at birth or in infancy with hypotonia and weakness, defined by a specific structural abnormality seen on muscle biopsy rather than by muscle fiber death or dystrophic change.
Step 2: Check central core disease.
Central core disease shows a well demarcated central area within the muscle fiber that lacks mitochondria and oxidative enzyme activity, seen on ATPase and NADH stains. It is a classic congenital myopathy, linked to the ryanodine receptor gene RYR1, and to malignant hyperthermia risk.
Step 3: Check nemaline (rod body) myopathy.
This condition shows rod-shaped structures (nemaline bodies) within the muscle fibers, derived from Z-line material, seen with modified Gomori trichrome stain. It is one of the three classic congenital myopathies.
Step 4: Check centronuclear (myotubular) myopathy.
Here, muscle fiber nuclei sit in the centre of the fiber instead of the periphery, resembling fetal myotubes, hence the name myotubular myopathy. This is the third classic congenital myopathy.
Step 5: Check Z-band myopathy.
Z-band, or myofibrillar, myopathy is a separate, distinct group of muscle disorders where the Z-disc and its associated proteins break down and desmin-related material builds up. It usually presents later in life, in adults, with a distal or limb-girdle pattern of weakness, rather than as a congenital muscle disorder of infancy. It is not classified among the traditional congenital myopathies.
Step 6: Final answer.
Central core disease, nemaline myopathy, and centronuclear myopathy are all classic congenital myopathies. Z-band myopathy is not.
\[ \boxed{\text{Z Band Myopathy}} \]
Congenital myopathies are a group of inherited muscle disorders that present at birth or in infancy with hypotonia and weakness, defined by a specific structural abnormality seen on muscle biopsy rather than by muscle fiber death or dystrophic change.
Step 2: Check central core disease.
Central core disease shows a well demarcated central area within the muscle fiber that lacks mitochondria and oxidative enzyme activity, seen on ATPase and NADH stains. It is a classic congenital myopathy, linked to the ryanodine receptor gene RYR1, and to malignant hyperthermia risk.
Step 3: Check nemaline (rod body) myopathy.
This condition shows rod-shaped structures (nemaline bodies) within the muscle fibers, derived from Z-line material, seen with modified Gomori trichrome stain. It is one of the three classic congenital myopathies.
Step 4: Check centronuclear (myotubular) myopathy.
Here, muscle fiber nuclei sit in the centre of the fiber instead of the periphery, resembling fetal myotubes, hence the name myotubular myopathy. This is the third classic congenital myopathy.
Step 5: Check Z-band myopathy.
Z-band, or myofibrillar, myopathy is a separate, distinct group of muscle disorders where the Z-disc and its associated proteins break down and desmin-related material builds up. It usually presents later in life, in adults, with a distal or limb-girdle pattern of weakness, rather than as a congenital muscle disorder of infancy. It is not classified among the traditional congenital myopathies.
Step 6: Final answer.
Central core disease, nemaline myopathy, and centronuclear myopathy are all classic congenital myopathies. Z-band myopathy is not.
\[ \boxed{\text{Z Band Myopathy}} \]
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