Motor Neurone Disease

Gene: ASAH1

Biallelic variants in the ASAH1 gene are associated with a spectrum of disorders ranging from Farber disease (FD) to spinal muscular atrophy with or without progressive myoclonic epilepsy (SMA‐PME). FD presents most commonly in infants with subcutaneous joint nodules, progressive arthritis and granulomas of the larynx and epiglottis leading to a hoarse cry. SMA‐PME is characterized by childhood onset progressive weakness due to motor neuron disease followed by progressive epilepsy, tremor, and sensorineural hearing loss.

Created: 2 Nov 2020, 5:13 a.m. | Last Modified: 2 Nov 2020, 5:13 a.m.

Panel Version: 0.5257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 32875576
• 32449975

Red List (low evidence)

Early childhood onset, included in Hereditary Neuropathy panels.

Created: 28 Sep 2020, 4:59 a.m. | Last Modified: 28 Sep 2020, 5 a.m.

Panel Version: 0.90

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950

Green List (high evidence)

SMA-PCE is categorised as a motor neuron disease. Early childhood onset and early death.
Sources: Expert list

Created: 15 Jan 2020, 1:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950