Typical Phenotype, MRI and Histology


Movement

Right

Left

Movement

Right

Left

Shoulder abduction

4+

4+

Hip flexion

2

4

Elbow extension

4

4−

Hip extension

5

5

Elbow flexion

4

4−

Hip abduction

5

5

Wrist extension

4−

4−

Hip adduction

3

4

Wrist flexion

3

3

Knee flexion

4

3

Finger extension

4

4

Knee extension

2

2

Forefinger abduction

5

5

Ankle dorsiflexion

4+

4

Little finger abduction

4+

4+

Ankle plantarflexion

5

4

Thumb abduction

4+

4+

Ankle eversion

5

5

Long finger flexors

2

1

Ankle inversion

5

4+

Short finger flexors

4

4

Big toe extension

5

5


MRC scale: 5 = normal strength, 0 = no movement





Investigations


Creatine kinase was initially 1083 (20–200) which reduced to the normal range after starting prednisolone. Other blood tests including full blood count, renal function, liver function, thyroid function, inflammatory markers and auto-antibodies were normal. Nerve conduction studies were normal and electromyography showed myopathic changes in biceps, rectus femoris, vastus medialis and tibialis anterior. MRI of lower limb muscles demonstrated both fatty atrophy of muscles, most notably quadriceps in the thigh and medial gastrocnemius in the calf, but also hyperintensity on sequences sensitive to muscle oedema (Fig. 34.1). A muscle biopsy was performed (Fig. 34.2).
Aug 15, 2017 | Posted by in NEUROLOGY | Comments Off on Typical Phenotype, MRI and Histology

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