Kennedy disease

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Kennedy disease

ORPHA:481Disease

Also called SBMA · SMAX1 · X-linked BSMA · X-linked bulbospinal amyotrophy · X-linked bulbospinal muscular atrophy · X-linked spinal and bulbar muscular atrophy

What it is

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.

Key facts

Prevalence
1-9 / 100 000 (Europe)
Age of onset
Adult
Inheritance
X-linked recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

ARDisease-causing germline mutation(s)

ICD-10 codes

G12.2filed under a broader ICD-10 category — shared with 25 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

GARD 6818MEDDRA 10068600MONDO 0010735OMIM 313200UMLS C1839259

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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