Table 4b.

Distal Myopathies of Interest in the Differential Diagnosis of Laing Distal Myopathy

GeneDisorder 1MOIMean Age at OnsetInitial Muscle Group InvolvedSerum CK
MYH7 Laing distal myopathyAD<5 yrsAnkle & great toe extensorsUsually normal; rarely 8x normal
TTN Udd distal myopathy – tibial muscular dystrophy AD>35 yrsAnterior compartment in legsNormal
GNE GNE myopathy (Nonaka distal myopathy)AR>20 yrsAnkle dorsiflexion, toe extension<10x normal
BAG3
CRYAB
DES
FLNC
KY
LDB3
MYOT
PYROXD1
TTN 		Myofibrillar myopathies 2 (OMIM PS601419)AD
AR		Mostly adulthood, rarely teensIf presentation is distal, ankle dorsiflexion & plantarflexion, ± finger wrist extension 2Normal to 4x normal
DYS1 Miyoshi myopathy (See Dysferlinopathy.)ARLate teens, early adulthoodCalf muscles20-150x normal
TIA1 Welander distal myopathy 3 (OMIM 604454)AD
AR		>40 yrsIntrinsic muscles of hand & extensor pollicus longusNormal
ANO5 Distal anoctaminopathy (See ANO5 Muscle Disease.)AR>20 yrsAnkle plantar flexion5x normal
1.

Listed from most similar to Laing distal myopathy to least similar

2.

Typically characterized by onset of proximal weakness, but all myofibrillar myopathies can have onset of distal weakness, most often in the legs. Common finding is disintegration of the sarcomeric Z-discs and the myofibrils leading to abnormal ectopic accumulation of multiple proteins involved in the structure of the Z-disc (e.g., desmin, dystrophin, and myotilin).

3.

Usually begins in the hand and finger extensors but may begin in the anterior compartment muscles of the lower legs [von Tell et al 2002]. Affected individuals typically experience weakness of the extensor of the index finger after age 40 years, followed by slow progression to the other finger extensors and to the anterior and posterior leg muscles [Hackman et al 2013].

From: Laing Distal Myopathy

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