This is a complex and concerning progressive neuromuscular disorder rather than simple deconditioning or fatigue. The key features are: gradual progression over several years, predominantly proximal weakness (difficulty with squats, stairs, rising from chairs, lifting arms), involvement of the neck, jaw, abdominal muscles, facial muscles, and limbs, greater involvement on the right side, absence of sensory symptoms, and permanent loss of function once weakness develops. The muscle biopsy showing both neurogenic atrophy and mild myopathy is particularly important because it suggests that the process may involve both the motor nerves and the muscle itself, rather than a purely muscular disease. The lack of improvement with prednisolone also makes common inflammatory myopathies less likely, although it does not completely exclude them.
Given the history, further evaluation at a specialized neuromuscular center would be highly appropriate if it has not already been done.Conditions that specialists may consider include hereditary motor neuron disorders, distal or limb-girdle muscular dystrophies, facioscapulohumeral muscular dystrophy (FSHD), inclusion body myopathy variants, mitochondrial disorders, congenital myopathies presenting later in life, or rare genetic neuromuscular syndromes. The facial involvement and asymmetric progression are particularly noteworthy. If not already performed, investigations that may be valuable include comprehensive neuromuscular genetic testing (or whole-exome/genome sequencing), detailed EMG and nerve conduction studies, CK levels, repeat expert review of the muscle biopsy, and review of muscle MRI patterns. The persistent upper lip weakness after dental anesthesia may represent a nerve injury, but the neurologist’s observation of failed reinnervation raises the possibility that an underlying neuromuscular disorder is impairing recovery. Overall, this history is most consistent with a progressive neuromuscular disease requiring tertiary-center evaluation, and obtaining consultation at a dedicated neuromuscular clinic—preferably one with expertise in rare genetic and motor neuron disorders—would be the most important next step. The combination of progressive weakness, facial involvement, neurogenic atrophy on biopsy, and lack of sensory symptoms warrants continued investigation rather than attributing the symptoms to a single muscle injury or the previously removed desmoid tumor.
Thank you for your response! My CK have always been consistently normal. The biopsy did not show any ragged red fibers, but few targetoid fibers were detected.
Ok. Do give your valuable review.
Hello
The pattern you describe is concerning for a progressive neuromuscular disorder, and the muscle biopsy finding of neurogenic atrophy with mild myopathy is a particularly important clue. Unfortunately, it is not possible to determine the exact diagnosis from the information provided, but several possibilities deserve consideration.
Features that stand out include:
* Slowly progressive weakness over several years * Predominantly proximal weakness (difficulty rising from a squat, chair, climbing stairs, lifting arms) * Facial involvement (persistent upper lip weakness) * Neck, trunk, abdominal, jaw, arm, and leg involvement * No sensory symptoms * Permanent loss of function once weakness develops * Biopsy showing neurogenic atrophy * Lack of response to prednisone
This combination raises concern for disorders affecting the motor neurons, peripheral nerves, neuromuscular junction, or certain genetic muscle diseases. Possibilities that would warrant further evaluation include:
* Adult-onset spinal muscular atrophy (SMA) * Hereditary motor neuropathies * Facioscapulohumeral muscular dystrophy (FSHD) * Limb-girdle muscular dystrophies * Inclusion body myopathy variants (less typical at your age) * Rare genetic neuromuscular syndromes * Less commonly, atypical motor neuron diseases
The fact that prednisone, huperzine A, and D-ribose were ineffective makes an inflammatory muscle disease or classic myasthenia gravis less likely, though not completely excluded.
At this stage, the most valuable next steps would be:
1. Comprehensive EMG and nerve conduction studies, preferably at a specialized neuromuscular center. 2. Genetic testing, ideally a broad neuromuscular gene panel or whole-exome/genome sequencing if not already performed. 3. Review of the muscle biopsy by a neuromuscular pathology expert if this has not been done. 4. Measurement of CK (creatine kinase), respiratory muscle function, and cardiac evaluation if not already completed. 5. Assessment at a tertiary neuromuscular referral center with expertise in rare neuromuscular diseases.
The facial weakness following dental anesthesia is particularly unusual. The return of sensation but persistent inability to elevate the lip suggests either nerve injury with incomplete recovery or an underlying vulnerability of the motor system. The neurologist’s observation of failed reinnervation makes this an important clue rather than something that should automatically be attributed solely to the dental procedure.
Because your weakness is progressive and affecting multiple muscle groups, I would encourage seeking evaluation at a major neuromuscular center rather than continuing isolated local consultations. The biopsy result showing neurogenic atrophy indicates that further investigation of the motor neuron and peripheral motor nerve systems is especially important.
Feel free to talk Take care
Thank you for your response! My CK have always been consistently normal. The biopsy did not show any ragged-red fibers nor was there any histological evidence of myositis. However few targetoid fibers were detectable, alongside the findings of neurogenic atrophy. I have been tested multiple times for both myasthenia gravis and Lambert-Eaton myasthenic syndrome antibodies and the results were consistently negative.
Hello
The additional information makes inflammatory myopathy, mitochondrial myopathy, myasthenia gravis, and Lambert-Eaton syndrome less likely.
The combination of:
* Progressive proximal and trunk weakness * Normal CK * Neurogenic atrophy with targetoid fibers on biopsy * No sensory symptoms * Facial involvement * Poor recovery of lost function
raises greater concern for a motor neuron disorder, hereditary motor neuropathy, or a genetic neuromuscular disease rather than a primary muscle inflammation.
If not already done, the most important next steps would be comprehensive genetic testing and expert review by a specialized neuromuscular center, especially with detailed EMG/nerve conduction studies. The biopsy findings point more toward a problem affecting the motor nerve-muscle unit than classic muscle disease.
Hello It sounds like you’re dealing with a complex and challenging situation, especially with the neurogenic atrophy findings from your muscle biopsy. I can understand how frustrating it must be to experience weakness and loss of function without relief from treatments. Here’s a friendly approach to consider as you navigate this:
### Next Steps to Consider
1. Seek a Specialist: - If local neurologists are overwhelmed, consider seeking a referral to a neuromuscular specialist or a neurorehabilitation center. They often have more experience with complex cases and can provide tailored treatment plans.
2. Comprehensive Evaluation: - A thorough evaluation by a specialist may include advanced imaging (like MRI) and additional tests to assess nerve function and muscle health. This can help pinpoint the underlying cause of your symptoms.
3. Physical Therapy: - Continue with physical therapy, but ensure it’s tailored to your specific needs. A physical therapist with experience in neuromuscular conditions can help design a program that focuses on maintaining mobility and strength without exacerbating weakness.
4. Occupational Therapy: - An occupational therapist can assist with daily activities and suggest adaptive strategies or tools to help you manage your symptoms better.
5. Nutritional Support: - Consider consulting a nutritionist who specializes in neuromuscular disorders. Proper nutrition can play a role in muscle health and overall well-being.
6. Explore Alternative Therapies: - Some patients find relief through complementary therapies like acupuncture, massage, or yoga. While these should not replace conventional treatment, they may help improve quality of life.
7. Support Groups: - Connecting with others who have similar conditions can provide emotional support and practical advice. Look for local or online support groups for individuals with neuromuscular disorders.
8. Regular Follow-Ups: - Keep regular follow-up appointments with your healthcare team to monitor your condition and adjust treatment plans as necessary.
### Summary Navigating a complex condition like yours can be daunting, but seeking specialized care and a comprehensive approach can make a difference. Don’t hesitate to advocate for yourself and explore all available options.
Thank you
Hello dear See as per clinical history it seems presence of Nerve degeneration Differential diagnosis include Nerve irritation Bmr impact Body weakness Thyroid dysfunction may be but rare Iam suggesting some medication and precautions for improvement Please follow them for atleast a week Zincovit multivitamin therapy onca a day for 3 months Hot fomentation application twice a day for 5 days Crave bandage application twice a day for 5 days In addition please get following tests done for confirmation of exact diagnosis and best treatment Please share the result with orthopedic surgeon for better clarity CBC Esr Serum tsh Hla b 27 Crp Ct scan if recommended by orthopedic surgeon Hopefully you recover soon Regards
Your symptoms and the progressive nature of your muscle weakness suggest a complex underlying neuromuscular disorder. The findings of neurogenic atrophy with mild myopathy on the muscle biopsy point toward a condition affecting both nerves and muscles. Given the combination of motor weakness, failed reinnervation, and asymmetrical involvement, several conditions could be considered in your differential diagnosis. Amyotrophic lateral sclerosis (ALS) or other motor neuron diseases could be possibilities, though usually they present with upper and lower motor neuron findings, and sensory loss is rare. Although some patterns don’t fit perfectly, consider specialized testing for rarer disorders like multifocal motor neuropathy or even rare metabolic or mitochondrial disorders given the systemic involvement. It’s imperative to consult a neuromuscular specialist or even a center specializing in rare neurological diseases for targeted investigations, such as electrophysiological studies (EMG/NCS), genetic testing, and possibly advanced imaging like MRI of the spine or brain if not already done.
Immunological causes might include inflammatory conditions such as inclusion body myositis or steroid-resistant autoimmune neuropathies, despite your non-response to prednisone. Further, the involvement of the right thigh and significant changes post-surgery for a desmoid tumor may indicate a separate localized complication which should not be dismissed. Given these complexities, a thorough re-evaluation at a highly specialized neurology center is advisable. The management plan should be multi-disciplinary, involving neurologists, physiotherapists skilled in neurological rehabilitation, and perhaps occupational therapists to help with functional adaptability in daily activities. While the failed treatments can be disheartening, exploring newer immunotherapies, or even trials may benefit if an autoimmune component is identified. Consider lifestyle adaptations to reduce strain on affected muscles, like using assistive devices for mobility, customizing diet with a nutritionist to ensure optimal muscle health, and continuing physio and occupational therapy for maintaining as much function as possible. Persistence and a holistic approach are key, given the complexity and uniqueness of your symptoms.
