Kennedy Disease

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Kennedy Disease

  • Muscular hypotonia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance
  • Hyporeflexia
  • Abnormality of movement
  • Type II diabetes mellitus
  • Gynecomastia
  • Dysphonia
  • Decreased fertility

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Kennedy Disease Is also known as x-linked bulbospinal muscular atrophy, x-linked bsma, x-linked bulbospinal amyotrophy, x-linked spinal and bulbar muscular atrophy, smax1, sbma.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Kennedy Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AR Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

AR
Specificity
100 %
Genes
100 %
AR Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

AR
Specificity
100 %
Genes
100 %
AR Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

AR
Specificity
100 %
Genes
100 %
Kennedy's Disease (SBMA) DNA Test.

By Athena Diagnostics Inc (United States).

AR
Specificity
100 %
Genes
100 %
X-Inactivation Studies.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

AR
Specificity
100 %
Genes
100 %
Kennedy disease.

By Center for Human Genetics, Inc (United States).

AR
Specificity
100 %
Genes
100 %
Androgen Insensitiviy.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

AR
Specificity
100 %
Genes
100 %
Kennedy's Syndrome PCR.

By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).

AR
Specificity
100 %
Genes
100 %

You can get up to 92 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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