Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. [books.google.com]

Differential diagnosis and investigation of respiratory muscle weakness according to clinical presentation Patients presenting with respiratory muscle weakness will typically have nocturnal symptoms including orthopnea, sleep disruption, and headache [dovepress.com]

The onset usually occurs in adult life (between the second and fourth decade) but may be congenital or present in early childhood. [medlink.com]

Distal muscle weakness is present in about 80% of individuals. [ncbi.nlm.nih.gov]

Patients typically present with proximal muscle weakness of legs more than arms, with no sensory involvement. [clevelandclinicmeded.com]

• Hemophilia A

  A Mild hemophilia B Mild HPA Mild hyperphenylalaninemia Mild nemaline myopathy Mild osteogenesis imperfecta Mild peroxismal disorder due to PEX10 deficiency Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild PKU Mild [orpha.net]

• Weakness

  Neurologic exam revealed thinning of the anterior legs, bilateral calf hypertrophy, neck flexor and extensor weakness, distal greater than proximal weakness in the legs, and proximal weakness in the arms. CK level was mildly elevated at 318 U/L. [neurology.org]

  This disease also causes intense weakness in the thorax muscles involved in breathing, particularly the diaphragm. This weakness leads to respiratory problems and respiratory failure that can be potentially fatal. [ivami.com]

  This weakness worsens over time and can lead to life-threatening respiratory failure. [ghr.nlm.nih.gov]

  […] muscle weakness Mainly manifests with ophthalmoparesis and with bulbar weakness manifesting with dysarthria and dysphagia Facioscapulohumeral muscular dystrophy Approximately 4 per 100,000 population Face and arm weakness, scapular winging, and later [clevelandclinicmeded.com]

  weak Proximal legs may become weak late in disease Quadriceps weak in rare male Many remain ambulatory Earlier onset (2nd decade) may lose ambulation in 3rd to 6th decade Homozygotes: Loss of ambulation by 3rd decade Cardiomyopathy Laboratory CK: Mild [neuromuscular.wustl.edu]

• Difficulty Walking

  Among the earliest signs of the condition are breathing problems and difficulty walking. [ghr.nlm.nih.gov]

  Affected muscle groups: Proximal muscle groups - difficulty rising from chair, climbing stairs, shaving, hair combing. Distal muscles - difficulty walking (flapping gait), grasping, handwriting. [patient.info]

  Signs and symptoms [ edit ] Some early signs of HIBMs includes: Difficulty walking on heels, and difficulty running; Weak index finger; Frequent loss of balance. [en.wikipedia.org]

• Amyloidosis

  Familial amyloidosis (TTR mutation) Inherited Myopathies Muscular Dystrophy Dystrophinopathy (Duchenne muscular dystrophy,Becker muscular dystrophy) Myotonic dystrophy 1 and 2 Facioscapulohumeral muscular dystrophy Oculopharyngeal muscular dystrophy [clevelandclinicmeded.com]

  View Article PubMed PubMed Central Google Scholar Neumann M, Kwong LK, Sampathu DM, Trojanowski JQ, Lee VM: TDP-43 proteinopathy in frontotemporal lobar degeneration and amyotrophic lateral sclerosis: protein misfolding diseases without amyloidosis. [bmcneurol.biomedcentral.com]

  Macrostomia Macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia with mitral valve insufficiency MAC spectrum MACS syndrome Macular amyloidosis [orpha.net]

• Respiratory Insufficiency

  Design/Methods: Case report Results: A 29-year-old Afghan woman with no family history of muscle disease who developed proximal limbgirdle weakness in her early 20s that slowly progressed to prominent distal weakness and respiratory insufficiency (FVC [neurology.org]

  Respiratory function test revealed restrictive respiratory insufficiency that was treated with nocturnal ventilation support. [bmcneurol.biomedcentral.com]

  Falga-Tirado C, Perez-Peman P, Ordi-Ros J, Bofill JM, Balcells E (1995) Adult onset of nemaline myopathy presenting as respiratory insufficiency. Respiration 62(6):353–354 PubMed CrossRef Google Scholar 112. [link.springer.com]

  Differential Diagnosis Late-onset glycogen storage disease type II (GSD II) is characterized by proximal muscle weakness and respiratory insufficiency. Inheritance is autosomal recessive. [ncbi.nlm.nih.gov]

  Early involvement of the tibialis anterior is also common, except for the Portuguese family, who reported isolated respiratory insufficiency and a milder presentation of HMERF. [nature.com]

• Myopathy

  ▲ myopathies myopathies myopathies myopathies Myopathies, nemaline Myopathies, structural, congenital Myopathies, structural, congenital Myopathies, structural, congenital Myopathies, structural, congenital myopathology myopathy myopathy myopathy myopathy [medical-dictionary.thefreedictionary.com]

  […] with respiratory muscle involvement regardless of ethnic background Respiratory failure in adult myopathy patients is rare. [jnnp.bmj.com]

  Edstrom myopathy HMERF myopathy, proximal, with early respiratory muscle involvement Hedberg C, Toledo AG, Gustafsson CM, Larson G, Oldfors A, Macao B. [ghr.nlm.nih.gov]

  Hereditary myopathy with early respiratory failure (HMERF) - TTN gene Hereditary myopathy with early respiratory failure (HMERF) is a hereditary muscular disease that predominantly affects the proximal muscles and muscles that are needed to breathe. [ivami.com]

  Background: Hereditary myopathy with early respiratory failure is a rare dominantly inherited muscle disease characterized by slowly progressive proximal weakness and respiratory involvement at onset. [neurology.org]

• Muscle Weakness

  Peripheral neuropathy Graves’ ophthalmopathy, extraocular muscle weakness Sarcoidosis myopathy Asymptomatic muscle involvement in ≤50% sarcoidosis patients Symmetrical proximal muscle weakness Focal muscle weakness from sarcoid granuloma Peripheral neuropathy [clevelandclinicmeded.com]

  Additional testing may assist with the diagnosis of respiratory muscle weakness. [dovepress.com]

  Respiratory muscle weakness is difficult to identify on physical examination but may be suggested if patients become dyspneic when supine or if axial muscle weakness (e.g., neck flexor or abdominal muscle weakness) is present. [ncbi.nlm.nih.gov]

  Typically, patients present with lower limb muscle weakness, which slowly spreads to involve truncal, neck-flexor, facial, bulbar, and respiratory muscles. Distribution of the weakness may be distal or both proximal and distal. [medlink.com]

  Hereditary myopathy with early respiratory failure ( HMERF ) is characterized by adult-onset distal or proximal skeletal muscle weakness with respiratory muscle weakness involvement early in the disease course. [invitae.com]

• Suggestibility

  Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

  Two reports by Palmio et al 1 and Pfeffer et al 2 suggest that hereditary myopathy with early respiratory failure (HMERF) may not be rare and is distributed worldwide. [jnnp.bmj.com]

  Acuteness of symptoms: Weakness over hours suggests a toxic cause or episodic paralysis. Weakness developing over days - consider dermatomyositis or rhabdomyolysis. Weakness over weeks suggests polymyositis, steroid myopathy, endocrine myopathy. [patient.info]

  These results suggested that this rare mutation in TTN segregated with the disease in this family. [nature.com]

  A combination of distal and proximal weakness, cardiomyopathy, peripheral neuropathy, and autosomal dominant inheritance should suggest this disorder ( Nakano et al 1996 ). [medlink.com]

• Foot Drop

  Some affected individuals have weakness of muscles of the lower leg and foot, which makes it difficult to lift the toes while walking, a condition known as foot drop. [ghr.nlm.nih.gov]

  drop Hypotonia Weakness: Intrafamilial variation Legs Ankle dorsiflexion: Often severe with foot drop Hanging big toe Proximal muscles may be involved Neck: Sternocleidomastoids & Neck flexors Hands Finger (esp 5th) & Wrist extensors Onset age: 3rd to [neuromuscular.wustl.edu]

  drop can be through the use of Ankle Foot Orthoses (AFOs) which can be designed or selected by an Orthotist based upon clinical need of the individual. [en.wikipedia.org]

  GNE-related myopathy (IBM2) typically presents in the late teens to early adulthood with slowly progressive distal muscle weakness involving gait disturbance and foot drop secondary to anterior tibialis muscle weakness. [invitae.com]

  Her gait was waddling and she had bilateral foot drop. No muscle atrophies or hypertrophies were observed (Table 1 ). CK levels were 2-fold-increased. [bmcneurol.biomedcentral.com]

• Irritability

  Electro diagnostic study showed evidence of a generalized myopathy with irritability. MRI of the lower extremities revealed characteristic fatty infiltration mostly affecting the semitendinosus, quadriceps, and tibialis anterior muscles. [neurology.org]

  Variable in families: Some patients severely disabled, others mildly affected Respiratory failure: Some patients Tendon reflexes: Absent Pes cavus Tremor (30%) Laboratory Seum CK: Normal, or Mildly elevated (Up to 4x) EMG: Mixed features Myogenic & Irritable [neuromuscular.wustl.edu]

• Motor Symptoms

  symptoms in the absence of any sensory involvement. [clevelandclinicmeded.com]

• Hyponatremia

  Wasting CNS: Cerebral atrophy; Visuo-spatial processing defect Treatment Replacement of renal losses Cystine-depleting agents: Cysteamine Laboratory Diagnosis: Leukocyte cystine measurement Urine: Proteinuria; Glucosuria; Microscopic hematuria Blood: Hyponatremia [neuromuscular.wustl.edu]

• Sinus Arrhythmia

  Sinus arrhythmias, deep Q waves and elevated R waves precordially (for example, in Duchenne muscular dystrophy). Muscle biopsy Muscle biopsy is important in diagnosis but findings under the microscope are rarely pathognomonic. [patient.info]

You may need treatment in intensive care unit at a hospital. Chronic respiratory failure can often be treated at home. But if your chronic respiratory failure is severe, you might need treatment in a long-term care center. [medlineplus.gov]

Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. [books.google.com]

In acquired myopathies, treatment is targeted toward the underlying cause. Treatment of statin myopathies is dependent on creatine phosphokinase levels and degree of muscle symptoms. Consider lower doses when initiating statin therapy. [clevelandclinicmeded.com]

You may receive oxygen therapy and other treatment to help you breathe. NIH: National Heart, Lung, and Blood Institute Acute respiratory distress syndrome (Medical Encyclopedia) Respiratory acidosis (Medical Encyclopedia) [ Read More ] [icdlist.com]

Another protein, neural cell adhesion molecule is under-sialyated in people with IBM, but as of 2016 it had no known role in muscle function. [1] Treatment [ edit ] Treatment is palliative, not curative (as of 2009). [16] Treatment options for lower limb [en.wikipedia.org]

Prognosis This depends on the specific diagnosis. The primary disorders are incurable conditions with varied prognosis. Secondary myopathy may be corrected by treating the underlying cause. [patient.info]

Prognosis [ edit ] A 2009 review noted that muscle weakness usually begins after age 20 and after 20–30 years, the person usually requires a wheel chair for mobility. [en.wikipedia.org]

Prognosis of amyotrophic lateral sclerosis with respiratory onset. J Neurol Neurosurg Psychiatry. 2007;78(6):629–631. 10. Brooks BR, Miller RG, Swash M, Munsat TL. [dovepress.com]

In cases suspected to be a primary inflammatory myopathy, specific autoantibodies can be considered to determine the prognosis and rule out associated conditions. [clevelandclinicmeded.com]

ALS with respiratory onset: Clinical features and effects of non-invasive ventilation on the prognosis. Amyotroph Lateral Scler. 2010; 11 :379–82. [ PubMed : 20001486 ] Hedberg C, Melberg A, Dahlbom K, Oldfors A. [ncbi.nlm.nih.gov]

Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures. [clevelandclinicmeded.com]

^ Carrillo N, Malicdan MC, Huizing M (2018) GNE myopathy: Etiology, diagnosis, and therapeutic challenges. Neurotherapeutics doi: 10.1007/s13311-018-0671-y ^ "Inclusion body myopathy 3". NIH Genetic and Rare Diseases Information Center. [en.wikipedia.org]

Oculopharyngodistal myopathy This condition is associated with both autosomal dominant and recessive inheritance, and the genetic etiology is unknown. 12 Respiratory failure in ambulant patients is common in this condition, and clinical presentation includes [dovepress.com]

Prevalence The prevalence of HMERF is not known, but it is most likely underrecognized because of its broad phenotypic spectrum and the very recent discovery of its underlying genetic etiology. [ncbi.nlm.nih.gov]

However, the underlying genetic etiology in this family was unknown. The aim of this study was to determine the genetic cause in this family. To identify the responsible genetic mutation, we performed linkage analysis and whole-exome sequencing. [nature.com]

3 Dutch families Gowers (Laing; Early adult onset distal myopathy type III; MPD1) 3, 4 ● Myosin heavy chain 7 (MYH7) ; Chromosome 14q11.2; Dominant or Sporadic Epidemiology Australian, German, Italian & Austrian families Genetics: MYH7 mutations Types [neuromuscular.wustl.edu]

Epidemiology These are all relatively uncommon diseases: Duchenne muscular dystrophy is easily the most common childhood-onset muscular dystrophy and affects 1 in 3,300 boys. [ 6 ] The prevalence of Duchenne muscular dystrophy is 63 cases per million. [patient.info]

Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female > male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness [clevelandclinicmeded.com]

Jones & Jianbo Yao Canine Genetics and Epidemiology (2017) Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples Silvia Bonfiglio, Irene Vanni, Valeria Rossella, Anna [nature.com]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

The pathophysiology is still unclear. Cardiac involvement may occur. [en.wikipedia.org]

Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances. [clevelandclinicmeded.com]

Prevention Genetic counselling is, in some of the most common myopathies such as Duchenne muscular dystrophy, the only intervention that can prevent disease. In general: Give genetic counselling early. [patient.info]

In patients with an underlying metabolic myopathy, education about following a more moderate exercise program and avoiding intense exercise and fasting is necessary in preventing recurrent episodes. [clevelandclinicmeded.com]

Some of these conditions have disease-modifying treatment available, but even in the absence of such therapy, the management of respiratory failure with supportive care such as NIV and cough assist is recommended to improve quality of life and prevent [dovepress.com]

Exercises and activities suggested by physiotherapy consultation may be helpful to prevent continued loss of physical function due to inactivity. [ncbi.nlm.nih.gov]