Table 3.

Distinguishing Between the Major Phenotypes of the Alpha-Dystroglycanopathies: FCMD, MEBD, and WWS

PhenotypeGene(s)Severity of FindingsBrain MRI
MDEyeIDBrain stemCerebellumCerebellar cystsHydrocephalus
Fukuyama CMD FKTN Moderate to severeMildModerateUsually normal; in rare cases hypoplasticUsually normal; occasionally smallObservedRare
Muscle-eye-brain disease (See OMIM PS236670.)DAG1 1
GMPPB 2
LARGE1 3
POMGNT1 4
POMT1
POMT2		MildSevere 5SevereAlmost always smallAlways smallObservedCommon
Walker-Warburg syndrome (See OMIM PS236670.)B3GALNT2 6
B4GAT1 7
CRPPA (ISPD) 8
DAG1 9
FKRP 10
FKTN
GMPPB 2
LARGE1 3
POMGNT1 4
POMGNT2 11
POMK 12
POMT1 13
POMT2 14
RXYLT1 (TMEM5) 15		MildSevere 16SevereVery small & kinked at
junction of midbrain & pons		Very smallObservedAlmost universal

ID = intellectual disability; MD = muscle dystrophy

1.
2.
3.
4.
5.

Severe congenital myopia, congenital glaucoma, pallor of the optic discs, retinal hypoplasia

6.
7.
8.

Mutation of CRPPA (ISPD) causes severe WWS but is also a cause of the milder forms such as LGMD [Cirak et al 2013].

9.
10.
11.
12.
13.
14.
15.
16.

Microphthalmia, retinal detachment, retinal hypoplasia, anterior chamber malformation, cataracts

From: Fukuyama Congenital Muscular Dystrophy

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