Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: ACADVL

Comment when marking as ready: Some phenotypic overlap in view of reports of raised CK, and some individuals having clinical diagnosis of LGMD.

Created: 29 Jun 2020, 10:14 a.m. | Last Modified: 29 Jun 2020, 10:14 a.m.

Panel Version: 0.21

I don't know

PMID: 9546340 - 4/15 patients developed elevated CK levels and rhabdomyolysis within the first year of life. No mention of myopathy or specific dystrophic features.

PMID: 32558070 - 6 unrelated patients with adult-onset VLCAD deficiency. 4/6 had muscle weakness of the neck flexion, arms abduction and elbow flexion. CK levels varied among the patients, though most were elevated.
Four patients had an EMG showed myopathic changes of the upper and lower limbs, one did not report muscle weakness.
Only 1/6 patients were reported with significant changes on muscle MRI.

PMID: 22097235 - One 18 year old patient with persistent muscle cramps, elevated CK levels. Patient was diagnosed with limb girdle MD, at 21 years old struggled to climb stairs or walk

PMID: 24305961 - 8/12 patients reported either muscle pain and/or exercise intolerance, 9/12 had elevated CK levels. VLCADD patients showed predominantly proximal T1W SI changes.

Summary: dystrophic changes have been reported but does not appear to be a common feature
Sources: Expert list

Created: 29 Jun 2020, 2:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VLCAD deficiency 201475

Publications

• PMID: 9546340
• 32558070
• 22097235
• 24305961

Green List (high evidence)

Rhabdomyolysis is a prominent feature of the adult-onset form of this condition.
Sources: Expert list

Created: 12 Feb 2020, 2:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VLCAD deficiency MIM#201475

Publications

• 9546340
• 24263034