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Monomelic amyotrophy
1 OMIM reference -
2 associated genes
50 connected diseases
13 signs/symptoms
Disease Type of connection
Joubert syndrome
Hereditary breast and ovarian cancer syndrome
Huntington disease
Juvenile Huntington disease
Pulverulent cataract
Achondroplasia
Alpha-thalassemia - X-linked intellectual deficit syndrome
Alpha-thalassemia - myelodysplastic syndrome
Amelo-cerebro-hypohidrotic syndrome
Autosomal recessive malignant osteopetrosis
Camptodactyly - tall stature - scoliosis - hearing loss
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Dystonia 16
Extraskeletal myxoid chondrosarcoma
Familial amyloid polyneuropathy
Familial lipoprotein lipase deficiency
Familial melanoma
Giant cell glioblastoma
Gliosarcoma
Griscelli disease type 2
Hereditary motor and sensory neuropathy, Okinawa type
Heritable pulmonary arterial hypertension
Holmes-Gang syndrome
Hyperlipoproteinemia type 5
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Joubert syndrome with orofaciodigital defect
Juberg-Marsidi syndrome
Keratosis follicularis spinulosa decalvans
Lacrimo-auriculo-dento-digital syndrome
Mandibular hypoplasia-deafness-progeroid syndrome
Muenke syndrome
Multiple endocrine neoplasia type 1
Orofaciodigital syndrome type 1
Papillary or follicular thyroid carcinoma
Primary ciliary dyskinesia
Retinitis pigmentosa
Saethre-Chotzen syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Simpson-Golabi-Behmel syndrome type 2
Smith-Fineman-Myers syndrome
Spastic paraplegia-optic atrophy-neuropathy syndrome
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Transthyretin-related familial amyloid cardiomyopathy
Synonym(s):
- Benign focal amyotrophy
- Hirayama disease
- JMADUE
- Juvenile muscular atrophy of distal upper extremity
- Juvenile muscular atrophy of the distal upper limb
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: unknown
External references:
1 OMIM reference -
1 MeSH reference: C538253
Gene symbol UniProt reference OMIM reference
C5ORF42 Q9H799614571
KIAA1377 Q9P2H0614634
Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Upper limb asymmetry / hemiatrophy / hemihypertrophy
- Upper limb segmental anomalies

Frequent
- Acrocyanosis / Raynaud's phenomenon / vasomotor disorders
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Nerve conduction abnormality

Occasional
- Anomalies of the immunitary system
- Movement disorder
- Myoclonus / fasciculations
- Tremor