Table 3.

Genes Associated with Distal Myopathies of Interest in the Differential Diagnosis of ANO5 Muscle Disease

GeneDisorderMOIMean Onset Age (yrs)Initial Muscle Group InvolvedSerum CK ConcentrationMuscle Biopsy
ANO5 1 Miyoshi muscular dystrophy 3 AR 20-25 Asymmetric posterior compartment in legs >10x Myopathic changes; scattered necrotic fibers
DYSF Miyoshi myopathy 2 (See Dysferlinopathy.)AR19 (median age at onset)Posterior compartment in legs>10xMyopathic changes
GNE Nonaka distal myopathy AR15-20Anterior compartment in legs<10xRimmed vacuoles
LDB3 Zaspopathy 3 (OMIM 609452)AD>40Anterior compartment in legsNormal or slightly ↑Vacuolar & myofibrillar myopathy
MYH7 Laing distal myopathy AD<5Anterior compartment in legs & neck flexorsNormal to (rarely) moderately ↑Type 1 fiber atrophy in tibial anterior muscles; disproportion in proximal muscles
MYOT Distal myotilinopathy (OMIM 609200)AD>40Posterior > anterior in legsSlightly ↑Vacuolar & myofibrillar
TIA1 Welander distal myopathy (OMIM 604454)AR
AD		>40Distal upper limbs (finger & wrist extensors)Normal or slightly ↑Rimmed vacuoles
TTN Udd distal myopathy AD>35Anterior compartment in legsNormal or slightly ↑± rimmed vacuoles

AD = autosomal dominant; AR = autosomal recessive; CK = creatine kinase; MOI = mode of inheritance

1.

Topic of this GeneReview; included to facilitate quick comparison of disorders

2.

Miyoshi myopathy is characterized by muscle weakness and atrophy, most marked in the distal parts of the legs, especially the gastrocnemius and soleus muscles. Over a period of years, the weakness and atrophy spread to the thighs and gluteal muscles (see Figure 2). The forearms may become mildly atrophic with decrease in grip strength; the small muscles of the hands are spared.

3.

Zaspopathy may also be referred to as Markesbery-Griggs late-onset distal myopathy.

From: ANO5 Muscle Disease

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