Rare Genetic Disorders: Symptoms and Inheritance Concerns

I would like to understand what condition is associated with these symptoms?

Hello, doctor.
I would like to understand if this is a genetic disorder or a rare disease.
My mother was born with differences compared to others.
She has limited mobility in her limbs, runs slowly, and has slower movements.
Her palms cannot open like those of a normal person, and the muscles in her arms and calves are thick and hard (as if they have been trained).
Additionally, her eyes automatically close when startled, and it takes 3 to 5 minutes for them to open normally.
In our family, there are five children, and the youngest brother exhibits the same symptoms as my mother.
He also has six-pack abs (which he was born with).
Since I am about to have a child, I am concerned about potential hereditary issues.
I informed my obstetrician about this, but they indicated that it could be hereditary.
However, I feel that the symptoms described do not align with my understanding of myopathy.
Although my mother passed away from stomach cancer at the age of 45, she did not experience muscular complications.
My brother is currently 26 years old and has normal intelligence, but his limbs and eyes are abnormal.
Is this considered a rare disease? Will it be hereditary? What is this condition called?

Xuan Ni, 20~29 year old female. Ask Date: 2008/02/15

Dr. Lin Xuanpei reply Rare Disease

Please have Miss Hsuan-Ni take her brother to a nearby medical center to see a neurologist for an evaluation.
First, clarify his condition to determine whether it is truly inherited from their mother.
Work to identify possible causes and confirm the diagnosis.
Only after that can genetic counseling be conducted, which includes explaining the condition and arranging for possible prenatal diagnosis with Dr.
Lin Hsuan-Pei at the Pediatric Genetics Department of Mackay Memorial Hospital.

Reply Date: 2008/02/15

More Info

Understanding rare genetic disorders can be quite complex, especially when considering the symptoms, inheritance patterns, and potential impacts on family members. Based on the symptoms you've described regarding your mother and brother, it seems that there may be a hereditary condition at play, possibly related to muscle and neurological function.

From your description, your mother exhibited symptoms such as reduced mobility, muscle rigidity, and unusual eye responses, which could suggest a neuromuscular disorder. The fact that your brother shares similar symptoms raises concerns about a genetic component. While you mentioned that your mother had gastric cancer, it's important to note that cancer is often multifactorial and may not directly relate to the neuromuscular symptoms.

The symptoms you've outlined could potentially align with conditions such as myopathy or muscular dystrophy, which are characterized by muscle weakness and can have various inheritance patterns. Myopathies can be inherited in an autosomal dominant or recessive manner, and some forms are linked to specific genetic mutations. The presence of muscle rigidity and the inability to open the hands fully could suggest a condition like myotonic dystrophy, which is known for causing muscle stiffness and weakness.

Regarding the inheritance risk for your future children, if the condition is indeed genetic, there is a possibility of passing it on. The exact risk would depend on the specific genetic disorder involved and its inheritance pattern. For instance, if it is an autosomal dominant condition, each child would have a 50% chance of inheriting the disorder. In contrast, if it is autosomal recessive, both parents would need to be carriers for a child to be affected.

Given the complexity of genetic disorders, it is crucial to consult with a genetic counselor or a specialist in genetics. They can provide a more accurate diagnosis based on a detailed family history and possibly genetic testing. This would help clarify whether the symptoms observed in your mother and brother are part of a recognized genetic syndrome and what the implications might be for you and your future children.

Additionally, it is important to consider the psychosocial aspects of living with a rare genetic disorder. Families affected by such conditions often face unique challenges, including emotional stress, financial burdens related to healthcare, and the need for specialized support. Awareness and understanding of the condition can help in managing these challenges and ensuring that affected individuals receive appropriate care and support.

In summary, while it is possible that your family may be affected by a rare genetic disorder, a definitive diagnosis and understanding of inheritance risks can only be achieved through professional genetic counseling and testing. This will not only provide clarity regarding the condition but also guide you in making informed decisions about family planning and health management.

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