Kennedy disease
Findings
No curated finding names Kennedy disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.
Definition from the Mondo Disease Ontology (MONDO:0010735), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- DysarthriaHPOHP:0001260
- Very frequent (80% to 99% of cases)
- DysphoniaHPOHP:0001618
- Very frequent (80% to 99% of cases)
- Erectile dysfunctionHPOHP:0100639
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- GynecomastiaHPOHP:0000771
- Very frequent (80% to 99% of cases)
- HyporeflexiaHPOHP:0001265
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Abnormal circulating lipid concentrationHPOHP:0003119
- Occasional (5% to 29% of cases)
- Testicular atrophyHPOHP:0000029
- Occasional (5% to 29% of cases)
Show the remaining 2
- Type II diabetes mellitusHPOHP:0005978
- Occasional (5% to 29% of cases)
- Muscular dystrophyMondoHP:0003560
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARHGNC:644
- Definitive · ClinGen · X-linked · 2023
- Definitive · G2P · X-linked · 2022
- Strong · Ambry Genetics · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: Kennedy disease
- Also called
- Kennedy's diseaseSBMASMAX1spinal and bulbar muscular atrophy of Kennedy, X-linked recessivespinal and bulbar muscular atrophy, X-linked type 1X-linked BSMAX-linked bulbospinal amyotrophyX-linked bulbospinal muscular atrophyX-linked spinal and bulbar muscular atrophy