The endless search for ME CFS - is it a Motor Neuron Disease?

What causes it? What is it? Is it motor neuron disease? 

Many people experience undetected muscle weakness for years, not realizing it isn't normal. Unfortunately, the journey to diagnosis is often lengthy and typically occurs only in the disease's late stages.

People often ignore early symptoms, continuing with their daily lives—working, walking, dancing, and fulfilling duties—without acknowledging the gradual decline in muscle strength until they reach a state of exhaustion. A single infection, sepsis, or even medication can precipitate a rapid worsening of their condition, forcing them to recognize that they can no longer function as they once did.

Due to the lack of a precise and accurate diagnosis, individuals often continue their search for answers. Despite scientific advancements providing some indicators and hints, such as the grip strength test by Professor Carmen Scheibenbogen, research into Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) has not significantly progressed, especially in exploring genetic possibilities.

While we wait for more conclusive research, genetic testing should be mandatory for a diagnosis. Meanwhile, it's crucial to remain vigilant and proactive in seeking medical advice if muscle weakness and other related symptoms persist.

Is ME/CFS Spinal Muscular Atrophy (SMA)? Or is it one of the other motor neuron diseases?

Read my journey and how I found out I have SMA.
https://swaresearch.blogspot.com/2024/01/is-me-cfs-spinal-muscular-atrophy.html

Different Motor Neuron Diseases?

1. Amyotrophic lateral sclerosis (ALS)
2. Spinal muscular atrophy (SMA)
3. Spinobulbar muscular atrophy (SBMA) Kennedy type.
4. Hereditary spastic paraplegia (HSP)
5. Post-polio syndrome (PPS)

Genetic hints:
Amyotrophic Lateral Sclerosis (ALS)

ALS is a neurodegenerative disease affecting motor neurons. About 10% of cases are familial (inherited), while the rest are sporadic. Key genes associated with ALS include:

    C9orf72: The most common gene associated with ALS, responsible for 25-40% of familial cases and about 6% of sporadic cases. It involves a hexanucleotide repeat expansion mutation.

    SOD1: Accounts for about 10-20% of familial ALS cases. Over 150 different mutations in this gene have been identified.

    TARDBP: Mutations here cause TDP-43 protein mislocalization and aggregation, contributing to ALS pathology.

    FUS: Associated with ALS6, with a wide range of disease onset ages.

These genetic mutations can be identified through genetic testing, which can inform family members about their risk and eligibility for gene-targeted therapies​ (The ALS Association)​​  (BioMed Central)​.

Spinal Muscular Atrophy (SMA)

SMA is caused primarily by mutations in the SMN1 gene, leading to a deficiency in the SMN protein, essential for motor neuron survival. There are several types of SMA, varying in severity and age of onset, which are determined by the number of copies of the SMN2 gene, a modifier gene.

Spinobulbar Muscular Atrophy (SBMA) Kennedy Type

SBMA is an X-linked recessive disorder caused by a CAG trinucleotide repeat expansion in the AR gene, which encodes the androgen receptor. This mutation leads to motor neuron degeneration in response to androgen binding.

Hereditary Spastic Paraplegia (HSP)

HSP is a group of genetic disorders characterized by progressive spasticity and weakness of the lower limbs. Mutations in several genes, including SPG4 (SPAST), SPG3A (ATL1), and SPG11, have been identified. These genes are involved in various cellular functions such as intracellular trafficking, mitochondrial function, and axon maintenance.

Post-Polio Syndrome (PPS)

PPS is a condition that affects polio survivors years after recovery from an initial acute poliovirus infection. There is no single genetic cause for PPS as it results from the long-term effects of polio.

For ALS, the advancements in genetic testing and sequencing technologies, such as long-read sequencing, are enhancing the understanding of the genetic underpinnings and aiding in the identification of new genetic variants associated with the disease​ (BioMed Central)​.

Reference:
    Amyotrophic Lateral Sclerosis (ALS):

        The ALS Association. "ALS Genes and Mutations." The ALS Association​ (The ALS Association)​​ (The ALS Association)​.

        Molecular Neurodegeneration. "Genetics of amyotrophic lateral sclerosis: an update." Molecular Neurodegeneration​ (BioMed Central)​.

        Molecular Neurodegeneration. "Advances in sequencing technologies for amyotrophic lateral sclerosis research." Molecular Neurodegeneration​ (BioMed Central)​.

    Spinal Muscular Atrophy (SMA):

        Genetics Home Reference. "Spinal Muscular Atrophy." Genetics Home Reference.

    Spinobulbar Muscular Atrophy (SBMA) Kennedy Type:

        Genetics Home Reference. "Spinal and Bulbar Muscular Atrophy." Genetics Home Reference.

    Hereditary Spastic Paraplegia (HSP):

        Genetics Home Reference. "Hereditary Spastic Paraplegia." Genetics Home Reference.

    Post-Polio Syndrome (PPS):

        Post-Polio Health International. "What is Post-Polio Syndrome?" Post-Polio Health International.

These sources provide comprehensive information on the genetic aspects and current research related to each condition.

 

© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right.
Library of Congress Card Number: LCN 00-192742

ISBN: 0-9703195-0-9

Note: By reading my blog, you acknowledge that I do not provide medical diagnoses or treatments. The information provided is meant to answer frequently asked questions and is gathered from reputable scientific papers.