nemaline myopathy 11

Nemaline myopathy 11, also known as autosomal recessive nemaline myopathy, is a rare genetic muscle disorder characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. This condition is caused by mutations in one of the genes associated with nemaline myopathy.

The symptoms of nemaline myopathy 11 typically begin to appear in childhood or adolescence, but can also start later in life. The main clinical manifestations include:

• Muscle weakness (myopathy) that gradually worsens over time
• Muscle atrophy (shrinkage) in the lower limbs and neck
• Delayed motor milestones (e.g., delayed walking)
• Respiratory insufficiency and feeding difficulties in some cases

It's worth noting that nemaline myopathy 11 is a rare form of nemaline myopathy, and its symptoms can vary widely from person to person. [9][10]

Nemaline rods were identified in the muscle biopsies of children with hypotonia (low muscle tone), which would now be described as rod bodies. The term 'nemaline myopathy' was suggested by Shy and co-workers, who first described this condition in the 1960s. [14]

Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. Mutations in human and/or mouse homologs are associated with this disease. [7]

Muscle Weakness and Skeletal Abnormalities

Nemaline myopathy, a rare inherited neuromuscular disorder, manifests with varying degrees of muscle weakness and skeletal abnormalities [12]. The condition primarily affects skeletal muscles, which are responsible for movement.

Common Symptoms:

• Muscle weakness (myopathy) throughout the body
• Most severe in the muscles of the face, neck, and limbs
• Breathing problems
• Feeding issues
• Weakness in the face, neck, arms, and legs

These symptoms can occur at birth or begin in early childhood, with varying degrees of severity [8]. In some cases, nemaline myopathy can lead to heart problems due to inadequate oxygen supply during severe bouts of respiratory weakness [11].

Key Takeaways:

• Muscle weakness is a primary symptom of nemaline myopathy
• Skeletal abnormalities and breathing problems are common symptoms
• The condition's severity and age of onset vary widely

References: [8] - When nemaline myopathy is caused by NEB gene mutations, signs and symptoms are typically present at birth or beginning in early childhood. [11] - In nemaline myopathy and congenital myotubular myopathy, an inadequate oxygen supply to the body during severe bouts of respiratory weakness can lead to heart problems.

Based on the provided context, it appears that you are looking for information on diagnostic tests for nemaline myopathy.

Nemaline myopathy is a rare genetic disorder characterized by muscle weakness and wasting, particularly in the muscles used for breathing, swallowing, and movement. Diagnostic tests for this condition typically involve a combination of clinical evaluation, imaging studies, and laboratory tests to confirm the diagnosis.

Here are some diagnostic tests that may be used to diagnose nemaline myopathy:

• Muscle biopsy: A muscle biopsy is often performed to examine the muscle tissue under a microscope. This test can help identify the presence of nemaline bodies, which are characteristic features of this condition [1].
• Electromyography (EMG): EMG measures the electrical activity of muscles and can help diagnose muscle weakness or wasting [2].
• Muscle imaging: Imaging studies such as magnetic resonance imaging (MRI) or computed tomography (CT) scans may be used to evaluate muscle size, shape, and function [3].
• Genetic testing: Genetic testing can identify mutations in the ACTA1 gene, which is associated with nemaline myopathy [4].

It's worth noting that a definitive diagnosis of nemaline myopathy often requires a combination of these tests, as well as clinical evaluation by a healthcare professional.

References:

[1] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3741433/ [2] https://emedicine.medscape.com/article/1171114-overview [3] https://pubmed.ncbi.nlm.nih.gov/28684632/ [4] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739835/

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Current State of Drug Treatment for Nemaline Myopathy

According to available information, there is no cure for nemaline myopathy, and treatment focuses on relieving specific symptoms [11]. Most people with the most common form of NM can lead full, active lives.

• Treatment Approach: The primary goal of treatment is to manage symptoms and improve quality of life.
• No Specific Therapy Available: To date, no specific therapy is available to treat muscle weakness in nemaline myopathy [5].
• Research on Treatment Options: Research is ongoing to explore potential treatments, including small molecule drugs that target specific molecules or pathways involved in the development of the condition [15].

It's essential to note that treatment options may vary depending on individual circumstances and the presence of any underlying conditions. Patients with nemaline myopathy should consult with their healthcare provider to discuss the best course of treatment.

References: [11] Most people inherit nemaline myopathy from one or more gene changes (mutations) passed down from their parents. Some people with nemaline myopathy have a spontaneous gene mutation. [5] by JM de Winter · 2021 · Cited by 15 — To date, no specific therapy is available to treat muscle weakness in nemaline myopathy. We tested the ability of tirasemtiv, a fast ... [15] by B Zhao · 2022 · Cited by 9 — Small molecule drugs are another area of research for the treatment of nemaline myopathy. These drugs work by targeting specific molecules or pathways involved in the development of the condition.

Differential Diagnosis of Nemaline Myopathy

Nemaline myopathy (NM) can be challenging to diagnose, and a thorough differential diagnosis is essential to rule out other neuromuscular diseases that may present with similar symptoms. Here are some conditions that should be considered in the differential diagnosis of nemaline myopathy:

• Congenital Muscular Dystrophy: This condition is characterized by muscle weakness and wasting, often accompanied by hypotonia and feeding difficulties.
• Congenital Myasthenia Gravis: This rare genetic disorder affects the transmission of nerve impulses to muscles, leading to muscle weakness and fatigue.
• Congenital Myotonic Dystrophy: This inherited condition is characterized by progressive muscle stiffness, wasting, and weakness, often accompanied by cataracts and other systemic features.
• Dermatomyositis: This autoimmune disorder affects the skin and muscles, causing inflammation and damage to both tissues.

Key Points to Consider

When considering a differential diagnosis for nemaline myopathy, it's essential to keep in mind the following key points:

• Muscle biopsy findings: The presence of nemaline rods on muscle biopsy is characteristic of nemaline myopathy.
• Clinical presentation: Patients with nemaline myopathy often present with hypotonia, weakness, and depressed or absent deep tendon reflexes.
• Genetic testing: Molecular testing for genetic variants associated with nemaline myopathy can help confirm the diagnosis.

References

[11] - Nemaline myopathies are caused by mutations in genes encoding proteins associated with the structure or regulation of the thin filament. The twelve known genes include NEB, ACTA1, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, and others.

[14] - A diagnosis of nemaline myopathy is suspected based upon a thorough clinical evaluation, a detailed patient and family history, identification of characteristic findings, and molecular testing for genetic variants.