Rare Diseases: A Journey Through Diagnosis and Symptoms

The difficult next step?

Hello Doctor: My illness seems to have started in the first year of junior high school.
I don't know why my legs began to feel weak, making it difficult to run or perform any vigorous repetitive movements, and my muscles are prone to strains.
Shortly after the onset of the illness, my hands also started to tremble, sometimes quite severely.
In the first two to three years of the onset, my legs frequently experienced cramps, and the thigh muscles often twitched irregularly, with the condition seemingly worsening over time.
(All of the symptoms began distally in the limbs and progressed inward.) Recently, my muscle endurance has deteriorated significantly (gradually worsening since the onset).
If I move a bit faster, my muscles become sore and weak.
Sometimes, if I walk quickly or for a longer distance, both legs become weak and numb, rendering me unable to move at all, especially below the ankles, which become quite sluggish.
I must rest before I can continue walking.
I previously underwent many tests at Linkou Chang Gung Memorial Hospital, where Dr.
Luo Rongsheng from the Neurology Department diagnosed me with a condition called anterior horn cell degeneration.
However, when I presented the diagnosis and medical records to the military doctor during my enlistment physical examination, he told me that the report only suggested a suspicion of this condition, which left me feeling quite confused.
Therefore, I kindly ask Dr.
Chen to help me diagnose and confirm what type of illness I have.
Thank you.
Note: My Chang Gung medical record number is 9594798.

Zheng, 20~29 year old female. Ask Date: 2004/03/21

Dr. Chen Shunsheng reply Rare Disease

I have not seen a patient, so I cannot directly tell you what disease it is.
However, I can introduce you to spinal anterior horn cell degeneration disorders: Spinal muscular atrophy (SMA) is a group of diseases caused by the degeneration of anterior horn cells (motor neurons) in the spinal cord, leading to muscle atrophy and weakness.
The muscle atrophy is symmetrical, with the lower limbs being more severely affected than the upper limbs, and proximal muscles being more affected than distal muscles.
Based on the age of onset and severity of the disease, SMA can be classified into three types: 1.
Severe spinal muscular atrophy (Werdnig-Hoffmann Disease); 2.
Intermediate spinal muscular atrophy (Intermediate type); 3.
Mild spinal muscular atrophy (Kugelberg-Welander Disease).
The clinical symptoms vary according to the different types:
1.
Severe spinal muscular atrophy (Werdnig-Hoffmann Disease): Symptoms appear within the first month after birth, with severe weakness in the patient's limbs and trunk, presenting a frog-like posture, significant hypotonia, and difficulties with neck control, swallowing, and breathing.
The crying is weak, but facial expression movements are normal, and tendon reflexes are absent.
2.
Intermediate spinal muscular atrophy: Symptoms often appear between six months to one year after birth, with symmetrical weakness in the lower limbs, more severe in the proximal muscles.
Patients are unable to stand or walk independently, and may exhibit tongue fasciculations and hand tremors.
Facial expression movements are normal, and tendon reflexes may be absent or diminished.
3.
Mild spinal muscular atrophy (Kugelberg-Welander Disease): Symptoms can occur from infancy to childhood, adolescence, or adulthood.
Patients exhibit mild, symmetrical proximal muscle weakness, with the lower and upper limbs being more affected.
Patients may experience mild difficulties when running, jumping, and climbing stairs, with diminished tendon reflexes.
As for laboratory data, serum muscle enzymes are normal or mildly elevated in all three types, while electromyography shows denervation changes.
Muscle biopsy is an important step in establishing the diagnosis, showing under optical microscopy a large group of atrophied muscle fibers interspersed with clusters of hypertrophied muscle fibers, with the hypertrophied fibers being predominantly type I fibers.
Currently, the molecular biology genetic defects in spinal muscular atrophy are still being clarified, which may provide a basis for early diagnosis in the future.
There is currently no effective treatment, and care primarily focuses on respiratory support.
For patients with intermediate and mild types, attention must be given not only to provide early and accurate diagnosis in the future but also to offer a glimmer of hope for treatment of this disease.

Reply Date: 2004/03/21

More Info

Understanding rare diseases, particularly those that affect muscle strength and coordination, can be a complex journey. Based on the symptoms you've described, it seems like you may be dealing with a neuromuscular disorder, potentially related to spinal muscular atrophy or another form of motor neuron disease. The symptoms of muscle weakness, cramps, and tremors, particularly starting from the distal extremities and moving inward, are indicative of such conditions.

The term "nosological entity" refers to a distinct disease or disorder that has specific characteristics and can be classified within medical taxonomy. In your case, the diagnosis of "anterior horn cell degeneration" suggests a condition affecting the motor neurons in the spinal cord, which could lead to progressive muscle weakness and atrophy. This is indeed a recognized nosological entity, as it encompasses a range of disorders that share similar pathological features.

Your experience of muscle weakness, particularly in the legs, and the subsequent tremors and cramps, aligns with symptoms seen in conditions such as Amyotrophic Lateral Sclerosis (ALS) or Spinal Muscular Atrophy (SMA). These conditions are characterized by the degeneration of motor neurons, leading to muscle weakness and atrophy. The progression of symptoms from the extremities towards the center of the body is a common pattern in these disorders.

The confusion you experienced during your military examination is not uncommon. Medical diagnoses can often be tentative, especially in the early stages of a disease when symptoms may not fully align with established diagnostic criteria. The term "suspected" in your diagnosis indicates that while the physician observed signs consistent with anterior horn cell degeneration, further testing or observation may be necessary to confirm the diagnosis.

To navigate your situation effectively, it is crucial to seek a comprehensive evaluation from a neurologist who specializes in neuromuscular disorders. They may recommend additional tests, such as electromyography (EMG), nerve conduction studies, or even genetic testing, to clarify the diagnosis. These tests can provide valuable insights into the function of your muscles and nerves, helping to distinguish between different types of neuromuscular diseases.

In addition, it may be beneficial to connect with support groups or organizations dedicated to rare diseases and neuromuscular disorders. These resources can provide not only information but also emotional support and connections to others who are experiencing similar challenges.

In summary, your symptoms suggest a potential neuromuscular disorder, possibly related to anterior horn cell degeneration. It is essential to pursue further evaluation with a specialist to obtain a definitive diagnosis and appropriate management plan. Understanding the nature of your condition will empower you to seek the right treatment and support, ultimately improving your quality of life.

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