Muscular dystrophy and myopathy_Paediatric

Gene: ADSSL1

Green List (high evidence)

PMID: 32646962 - 63 patients from 59 Japanese families with biallelic variants of ADSSL1. Most displayed variable muscle symptoms including in the proximal and/or distal leg muscles. Nemaline bodies in addition to increased lipid droplets and myofibrillar disorganization were commonly observed in all patients, suggesting that the disease may be classified as nemaline myopathy

Created: 9 May 2023, 11:34 p.m. | Last Modified: 9 May 2023, 11:34 p.m.

Panel Version: 0.130

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy MONDO:0018958

Publications

• 32646962

Green List (high evidence)

PMID: 3650622; 28268051
Age of onset 13-17 years in multiple individuals of unrelated families

PMID: 32646962 - Multiple individuals diagnosed with distal myopathy 5 (MD5)
Sources: Other

Created: 4 May 2023, 7:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy Distal 5 (MONDO:0014877; MIM#617030)

Publications

• PMID: 3650622
• 28268051
• 32646962

Green List (high evidence)

PMID: 28268051 - Four compound heterozygous unrelated Korean patients with adolescence-onset muscle weakness and distal myopathy. Recurring variants (c.910G>A, c.1048delA) are common among Korean patients.
Review of previous reports describes all patients (9) with onset in early childhood, earliest reported at 5 years old.

PMID: 32331917 - Two homozygous families (Turkish, Indian) with missense variants. One patient was diagnosed at 18 years old, the other at 10 years old.
Patients describes with progressive muscle weakness, muscle atrophy and early contractures.

Summary: Childhood onset commonly reported - GREEN. Potential AMBER/RED in GEL as no congenital reports found.
Sources: Expert list

Created: 10 Jun 2020, 3:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, distal, 5 617030

Publications

• PMID: 28268051
• 32331917

Green List (high evidence)

Two unrelated families and animal model.

Created: 16 Dec 2019, 11:20 p.m. | Last Modified: 16 Dec 2019, 11:20 p.m.

Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, distal, 5, MIM#617030

Publications

• 26506222