About kenny disease

What is kenny disease?

Kenny-Caffey syndrome type 2 (KCS2) is an extremely rare hereditary skeletal disorder characterized by thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), and abnormalities affecting the head and eyes. Most cases are obvious at birth (congenital). The primary outcome of KCS2 is short stature. Intelligence is usually normal. Individuals with KCS may also have recurrent episodes of low levels of calcium in the blood stream (hypocalcemia) that is caused by insufficient production of parathyroid hormones (hpoparathyroidism). In most cases, KCS2 is an autosomal dominant genetic disorder.

What are the symptoms for kenny disease?

Affected individuals begin to develop neurological symptoms between 20 to 50 years of age. These early symptoms include:

· Weakness/cramps in arm and leg muscles (proximal > distal) · Face, mouth, and tongue Muscle Weakness · Difficulty with speaking and swallowing (dysphagia) · Twitching (Fasciculations) · Tremors and trembling in certain positions · Enlarged breasts (gynecomastia) · Numbness · Infertility · Testicular atrophy

The disease affects the lower motor neurons that are responsible for the movement of many muscles in the legs, arms, mouth, and throat. Affected individuals will show signs of twitching, often in the tongue and/or hand, followed by Muscle Weakness and problems with facial muscles. These neurons, which connect the spinal cord to the muscles, become defective and die, so the muscles cannot contract. The destruction of these nerves is the main reason for the numbness, muscle weakness, and inability to control muscle contraction. With lack of normal neuromuscular function, a patient may experience hypertrophied calves in which the calf muscles thicken due to muscle cramps. In some cases, patients may also have one side of the body more affected than the other side.

The disease also affects nerves that control the bulbar muscles, which are important for breathing, speaking, and swallowing. Androgen insensitivity can also occur, sometimes beginning in adolescence and continuing through adulthood, characterized by enlarged breasts, decreased masculine appearance, and infertility. Patients may experience problems such as low sperm count and erectile dysfunction.

What are the causes for kenny disease?

Kennedy disease is caused by a change (mutation) in the AR gene that encodes for a protein known as the androgen receptor on the X chromosome. The instructions within every gene consist of different arrangements of four basic chemicals (nucleotide bases) called adenine (A), cytosine (C), guanine (G), and thymine (T). Individuals with the disease have an abnormal section in the AR gene, which is due to an excessive number of CAG trinucleotide repetitions in the DNA sequence. An unaffected individual has 10-35 CAG repeats in the AR gene while a person with Kennedy disease has more than 36 CAG repeats in the gene.

The androgen receptor is in the cytoplasm of a cell where it responds to signals from male sex hormones (androgens). These receptors are abundant in many body tissues such as the skin, kidney, prostate, skeletal muscle, and the central nervous system motor neurons in the spinal cord and brainstem. In an unaffected person, the androgen hormone will bind to the receptor, and then the hormone-receptor complex will translocate into the nucleus, where it will signal genes to increase protein production for various functions.

In Kennedy disease, the exact mechanism for neuronal impairment is unknown, but it has to do with an altered functioning of the mutant androgen receptor.

Kennedy disease is an X-linked genetic disorder that occurs primarily in males. Very rarely, female carriers of the abnormal gene may show symptoms.

Normal females have two X chromosomes, in which one is an activated chromosome and the other is inactivated. Female carriers for Kennedy disease typically do not show symptoms because the androgen receptor must bind to its ligand, testosterone, to translocate to the nucleus and perform its functions. As females have low circulating levels of testosterone, Kennedy disease female carriers do not activate their mutant androgen receptors, thus rendering the mutant state of the androgen receptor protein innocuous. Males have only one X chromosome and will develop Kennedy disease if they inherit the X chromosome containing the disease gene. Affected males with X-linked disorders will always pass the gene to their daughters, but will only pass their normal Y chromosome to their sons. Therefore, all of the daughters of an affected male will be carriers for the disease, while sons of an affected male will not have the disease. Sons of female carriers have a 50 percent chance of inheriting the disease, while daughters have a 50 percent chance of becoming carriers.

What are the treatments for kenny disease?

Currently, there is no known treatment or cure for Kennedy disease. Physical therapy, occupational therapy, and speech therapy are commonly used to adapt to the progressing disease and maintain an individual’s skills. Braces, walkers, and wheel chairs are used for ambulation. Breast reduction surgery is sometimes used as needed in patients with gynecomastia. Testosterone is not an appropriate treatment, as it can make the disease worse.

What are the risk factors for kenny disease?

Kenny disease is a rare genetic disorder that causes skeletal abnormalities, such as joint stiffness, joint contractures, and muscle weakness. It also causes breathing problems, which can be life-threatening.

The symptoms of Kenny-Caffey syndrome vary from person to person. Some people develop symptoms by the time they are toddlers or preschoolers; others have few symptoms until adulthood.

People with Kenny-Caffey syndrome may have short stature and have trouble growing hair or developing body fat. They often have an unusually shaped skull or face.

People with this condition often have joint stiffness, which makes their joints feel tight and stiff. This can cause pain and make it difficult for them to move their joints normally. Joint contractures may also develop over time due to the stiffness in their joints. Joint contractures occur when muscles tighten around a joint after being in one position for a long period of time (such as sleeping). This causes the bones in the joint to fuse together permanently into an abnormal shape that limits the movement of the joint.

The risk factors for Kenny-Caffey syndrome include:

1. Family history of Kenny-Caffey syndrome or other genetic conditions

2. A personal or family history of bleeding disorders such as hemophilia or von Willebrand disease

3. A family history of congenital heart defects.

4. Age: The condition is most common in babies and young children, though it can occur at any age. It's rare in adults.

5. Gender: Kenny-Caffey syndrome is more common in males than females.

6. Race/ethnicity. Kenny-Caffey syndrome occurs more often in people with African ancestry than white ancestry, but the exact reason for this isn't clear yet.

Poor coordination and balance, often leading to difficulty walking,Vision loss,Muscle weakness or paralysis in the arms and legs,Seizures,Stomach problems, such as nausea, vomiting, and diarrhea
Abnormally short fingers and toes,Pronounced facial features like a wide forehead, small eyes, and a flat nose,Small hands with short fingers and limited mobility in the joints,A large head with a prominent forehead and bulging eyes

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