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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Are Symptoms Of Kennedy S Disease In Women?

My father was diagnosed with Kennedys disease. His doctor said that as a girl I am definitely a carrier but that women generally don t show any signs or symptoms. I have been having issues with joint pain and muscle weakness. Could this be because of being a carrier?
Tue, 5 Apr 2016
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General & Family Physician 's  Response
Hello dear,
Understand your concern.
Please note that.

Kennedy's disease also called Spinal and bulbar muscular atrophy .
It is autosomal recessive genetic disorder
Due to mutated androgen receptor gene located on the X chromosome.
The effects of the mutation may be androgen-dependent, thus only males are fully affected.
Females are rarely affected, if both X gene is affected.
Female carriers (Only one chromosome affected) tend to have a relatively mild expression of the disease


It is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord
Associated with mutation of the androgen receptor gene.

Signs and Symptoms are below:

Weakness of tongue and mouth muscles,
Gradually increasing weakness of limb muscles with muscle wasting
Problem in control swallowing, speech, and other functions of the throat.
weakness and wasting of the muscle.
Respiratory musculature weakness
Tremor
Decreased or absent deep tendon reflexes
Cramps
Reduced fertility


Hope this may help you
Best regards
Dr. Sagar
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What Are Symptoms Of Kennedy S Disease In Women?

Hello dear, Understand your concern. Please note that. Kennedy s disease also called Spinal and bulbar muscular atrophy . It is autosomal recessive genetic disorder Due to mutated androgen receptor gene located on the X chromosome. The effects of the mutation may be androgen-dependent, thus only males are fully affected. Females are rarely affected, if both X gene is affected. Female carriers (Only one chromosome affected) tend to have a relatively mild expression of the disease It is a debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brain stem and spinal cord Associated with mutation of the androgen receptor gene. Signs and Symptoms are below: Weakness of tongue and mouth muscles, Gradually increasing weakness of limb muscles with muscle wasting Problem in control swallowing, speech, and other functions of the throat. weakness and wasting of the muscle. Respiratory musculature weakness Tremor Decreased or absent deep tendon reflexes Cramps Reduced fertility Hope this may help you Best regards Dr. Sagar