Presentation
Patient from consanguineous marriage presented with lower limbs muscular extreme weakness causing walking difficulties.
Patient Data
Thigh:
Symmetrical patchy edema within the majority of the adductors in the proximal medial thighs, most marked within the adductor longus muscles. Associated reduced muscular bulk.
Hamstring muscles, worst inferiorly where there is particularly marked edema within the long head of biceps femoris bilaterally.
Severe fatty atrophy with reduced muscle bulk of semimembranosus on the right and mild-to-moderate fatty infiltration of semimembranosus on the left with preserved muscle bulk.
Distal sartorius and gracilis muscle edema, only significantly on the right.
Small areas of patchy edema are seen within the vastus medialis distally.
There is markedly reduced muscle bulk of the left rectus femoris with fatty infiltration but it is not certain whether this is due to myopathy or prior muscle tear.
Calf:
In the proximal calf there is edema within the proximal third of tibialis anterior muscle on the right and to a lesser extent in proximal extensor digitorum longus muscle. Edema is quite faint in these muscles on the left.
In the mid and distal calf edema is predominantly seen within tibialis posterior muscle and flexor digitorum longus muscle left greater than right, without significant fatty atrophy.
The bilateral soleus and gastrocnemius muscles are markedly diminutive, likely due to chronic atrophy with markedly reduced muscle bulk no obvious associated edema.
No significant osseous abnormality
Summary:
Patchy muscle edema throughout multiple muscle groups in the thigh and calves bilaterally but predominantly seen in the adductors, hamstrings and deep calf muscles, as detailed above.
Varying degrees of fatty muscle infiltration, worst in the distal semimembranosus muscles, particularly on the right with marked reduced muscle bulk here.
Markedly diminutive bilateral gastrocnemius and soleus muscles, likely chronically atrophied.
Case Discussion
Described findings are in keeping with lower limbs myopathy. Muscular involvement pattern is most consistent with Miyoshi myopathy. Unfortunately targeted mutation analysis was refused by the patient.