Diseases of the nervous system
Systemic atrophies primarily affecting the central nervous system
Autosomal dominant
2p13,12q12-q13,21q22.1,22q12.2
Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. ALS usually begins with asymmetric involvement of the muscles in middle adult life. Approximately 10% of ALS cases are familial . ALS is sometimes referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 105400.1 | Lebanon | No | Gait disturbance; Ataxia; Distal amyot... Gait disturbance; Ataxia; Distal amyotrophy  | NM_000454.4:c.352C>G | Heterozygous | Autosomal, Dominant | Jalkh et al. 2019 | |||
| 105400.2 | Lebanon | Unknown | No | Motor neuron atrophy Motor neuron atrophy | NM_021076.4:c.1054C>T | Heterozygous | Autosomal, Dominant | Jalkh et al. 2019 | ||
| 105400.G.1 | Lebanon | Unknown | Yes | Skeletal muscle atrophy Skeletal muscle atrophy | NM_000454.4:c.352C>G | Heterozygous | Autosomal, Dominant | Megarbane et al. 2022 | 8 patients from 6 fa... |
Malek et al. 2020 described a clinical study of ALS with 140 patients from Lebanon, revealed 113 patients with classic ALS exhibiting a lower mean age of onset relative to global reports; the remaining patients presented with primary lateral sclerosis (9), progressive muscle atrophy (6), flail arm syndrome (3), flail leg syndrome (3), progressive and isolated bulbar palsy (3), and ALS with fronto-temporal dementia (1), in addition to 2 patients with monomelic amyotrophy.