Usually @ C8-T1 - so in upper extremity mostly Presents Disrupt lateral spinothalamic tract bilaterally Loss of nociception Loss of temperature sense Intact tactile sensation, proprioception - as decussate in medulla = dorsal column-medial lemniscus pathway [alancam.com]

Mild UMN signs are often present in the lower limbs. [jnnp.bmj.com]

Some people present with generalized weakness in infancy while others present with adult-onset weakness that may include proximal muscles and sensory loss. Many people’s first symptom is cramping in the legs. [cmtausa.org]

Patients usually present with facial weakness, dysphagia, and dysarthria. [msdmanuals.com]

Fasciculations and cramps are present. Bulbar involvement is often mild and occurs late in the disease. [neuroweb.us]

• Disability

  This market-leading text covers everything from basic examination and psychological assessment to electrodiagnosis, therapeutic exercise, orthotics and assistive devices, and in-depth clinical management of the full range of childhood disabilities and [books.google.com]

  […] and the ‘Disability Rights Handbook’ annually. [smasupportuk.org.uk]

  These disorders usually take several years to result in total disability. [msdmanuals.com]

  Conclusions: Despite their severe disabilities and symptoms, most SMARD1 patients are well integrated into their home environment and two thirds of them are able to attend kindergarten or school. [pediatrics.aappublications.org]

  […] influence, low levels of maternal folic acid, maternal hyperthermia and certain classifications of drugs -Impairment and non-fusion of the spinous processes of a vertebrae, however, the spinal cord and meninges remain intact usually with no associated disability [quizlet.com]

• Asymptomatic

  Heterozygotes (carriers) are asymptomatic. Sibs of a proband At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. [cmm.ucsd.edu]

  For predictive testing of asymptomatic individuals, it is important to first document the presence of a gene mutation in an affected family member. [mayomedicallaboratories.com]

  Asymptomatic forms have been described. NCVs may be slowed. MRI demonstrated abnormalities characteristic of leukodystrophy. The diagnosis is based on raised plasma total homocysteine (normal Post-irradiation lumbosacral radiculopathy MS [neuroweb.us]

  Symptom onset varies, with about ¼ of people having symptoms before age 10 years, 41% between 10 and 30 years, 20% over 30 years, and 14% asymptomatic after 50 years of age. Less than 10% of people with CMT2K need a wheelchair full-time. [cmtausa.org]

  Asymptomatic patients are also present. [emedicine.medscape.com]

• Movement Disorder

  Standardized criteria are also provided for epilepsy, genetic syndromes, headache, immune-based disorders, infectious diseases, movement disorders, neuromuscular disorders, and sleep disorders. [books.google.com]

  […] to chromosome four and to the gene identified as IT-15 -Disease perpetuated by having children prior to diagnosis -Average age for symptoms is 35-55 -Movement disorder that includes affective dysfunction and cognitive impairment -Symptoms may present [quizlet.com]

  disorders, neuromuscular disorders, acute neurology, neurocognitive disorders, pain and ophthalmology. [news.cision.com]

• Epilepsy

  Standardized criteria are also provided for epilepsy, genetic syndromes, headache, immune-based disorders, infectious diseases, movement disorders, neuromuscular disorders, and sleep disorders. [books.google.com]

  Hence clinical features include progressive cerebellar ataxia, or dementia with chorea, or prominent chorea and dystonia or progressive myoclonic epilepsy. [neuroweb.us]

  […] related to central and peripheral nervous system involvement, including muscle amyotrophy, optic atrophy, pigmentary retinopathy, mental retardation, extrapyramidal disease, ataxic syndrome, dementia, deafness, ichthyosis, peripheral neuropathy, and epilepsy [emedicine.medscape.com]

• Nasal Voice

  The muscles innervated by cranial nerves and corticobulbar tracts are predominantly affected, causing progressive difficulty with chewing, swallowing, and talking; nasal voice; reduced gag reflex; fasciculations and weak movement of the facial muscles [msdmanuals.com]

• Proximal Muscle Weakness

  Proximal muscles are the muscles that are closest to the center of the body such as the muscles of the shoulder, pelvis, and upper arms and legs. Muscle weakness may spread from the proximal muscles to affect distal muscles. [rarediseases.org]

  In 4 of the 5 patients having a severe phenotype, symptoms appeared during infancy (2 to 3.5 years), with proximal muscle weakness predominating in the lower limbs and early involvement of foot and hand muscles. [pediatricneurologybriefs.com]

  weakness of lower limbs Proximal muscle weakness and early involvements of foot and hand Muscle weakness Upper limb, proximal No Yes Upper limb, distal Yes Yes Lower limb, proximal Yes Yes Lower limb, distal Yes Yes Muscle atrophy Proximal < distal Proximal [ojrd.biomedcentral.com]

  Polymyositis usually appears in people 30-60 years old and presents as insidious onset of symmetrical, proximal muscle weakness, occasionally accompanied by muscle soreness. [dartmouth.edu]

  Muscle weakness can be proximal or diffuse. Frequently, swallowing is difficult and the neck is weak. The disease can develop acutely within a few days or chronically over years. [britannica.com]

• Lordosis

  Additional abnormalities that may develop in individuals with LGMD include abnormal side-to-side curvature of the spine (scoliosis), abnormal front-to-back curvature of the spine (lordosis), thickening and shortening of tissue that cause deformity and [rarediseases.org]

  […] mother is a silent carrier and only male offspring will manifest disease Duchenne Muscular Dystrophy -Symptoms manifest between 2 and 5 years Duchenne Muscular Dystrophy -Progressive weakness, disinterest in running, falling, toe walking, excessive lordosis [quizlet.com]

• Behavior Disorder

  The criteria cover a wide spectrum of neurological conditions whose diagnosis does not depend solely on histopathology (e.g., brain tumors), including cerebrovascular diseases, dementias and behavioral disorders, demyelinating disorders, and disorders [books.google.com]

• Tremor

  […] usually able to sit unattended, but cannot stand or walk without assistance Weak respiratory muscles, which can inhibit coughing Breathing problems Weakness in the muscles of the arms and especially of the legs Swallowing and feeding problems Slight tremor [thehumanthebody.com]

  Muscle cramps, facial fasciculations, hand tremor. Associated with type 2 diabetes and infertility. [patient.info]

   Weakness: Often confined to a single arm Distal involvement (97%): C7, C8 & T1 innervatedmuscles; Hand & Forearm Proximal > Distal: 10% Side: Right = Left Atrophy: "Oblique amyotrophy"; Sparingbrachioradialis Tremor (80%): On finger extension [slideshare.net]

  […] gene mutation causing abnormal repetition of DNA sequence and ultimately, impaired mitochondrial function -Gait unsteadiness begins early in life and is followed by upper extremity ataxia dysarthria, and paresis -Mental function declines and slight tremors [quizlet.com]

  Cramps and postural tremor were not observed. Symptom onset was after 45 years old in four of five families. In one family, disease onset occurred between 30 and 40 years of age. [scielo.br]

• Dysarthria

  Dysarthria Progressive bulbar palsy may manifest as progressive disturbance of speech lead in to dysarthria .[2]. The mechanism of dysarthria is a flaccid or spastic paresis of the musculature of the face, tongue, lips, palate, pharynx and larynx. [explainmedicine.com]

  Later on, bulbar involvement ensues causing dysphagia, drooling of saliva, dysphonia, tongue atrophy with fasciculations, spastic dysarthria ('hot potato speech') or aspiration. [neuroweb.us]

  The muscles of the respiratory system may also become involved in some cases resulting in difficulty swallowing (dysphagia), slurred speech (dysarthria), and breathing difficulties. [rarediseases.org]

   More common in older females: 50% with bulbarpresentation Bulbar onset in 20% to 30% of all ALS cases Features Dysarthria Speech rate: Slow Voice quality: Reduced Dysphagia•Coticobulbar tracts involvement•Spastic dysarthria,dysphonia,dysphagia [slideshare.net]

  […] is usually present -Autosomal recessive ataxia -Results from gene mutation causing abnormal repetition of DNA sequence and ultimately, impaired mitochondrial function -Gait unsteadiness begins early in life and is followed by upper extremity ataxia dysarthria [quizlet.com]

• Areflexia

  Paralysis spread to become generalized, except for the cranial nerves, and by age 16 years, patients were tetraplegic with areflexia, contractures, and scoliosis, and required assisted respiratory ventilation. Intelligence was preserved. [pediatricneurologybriefs.com]

  Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia/areflexia, and varying degrees of bulbar weakness. [amboss.com]

  […] and early involvements of foot and hand Muscle weakness Upper limb, proximal No Yes Upper limb, distal Yes Yes Lower limb, proximal Yes Yes Lower limb, distal Yes Yes Muscle atrophy Proximal < distal Proximal = distal (generalized) Sensory loss Yes No Areflexia [ojrd.biomedcentral.com]

  The paralysis is usually asymmetrical, predominantly involving the proximal muscles (lower limbs) with pain and tenderness with typical weakness, flaccidity and areflexia. The extent is variable from one muscle group to complete tetraparesis. [neuroweb.us]

  Joint contractures, severe progressive scoliosis, and restrictive lung disease were present in most of the SMA II individuals, but these complications were less frequently identified in SMA III. 32 Hand tremor, tongue fasciculations, and areflexia are [clinicalgate.com]

• Headache

  Standardized criteria are also provided for epilepsy, genetic syndromes, headache, immune-based disorders, infectious diseases, movement disorders, neuromuscular disorders, and sleep disorders. [books.google.com]

  The most common adverse events observed were headache, vomiting and back pain. Serious infections of hydrocephalus and meningitis have been observed in the post-marketing setting. [news.cision.com]

  Aseptic meningitis with headache, back pain, and stiff neck develop with increasing severity of the disease. [clinicalgate.com]

• Slurred Speech

  speech Drooling Difficulty swallowing and breathing in more advanced stages Less commonly, symptoms firstly appear in the tongue or hands and progresses downwards to the spinal cord and legs [thehumanthebody.com]

  The muscles of the respiratory system may also become involved in some cases resulting in difficulty swallowing (dysphagia), slurred speech (dysarthria), and breathing difficulties. [rarediseases.org]

  Other symptoms include hoarseness, dysphagia, and slurred speech; because swallowing is difficult, salivation appears to increase, and patients tend to choke on liquids. [msdmanuals.com]

[…] and other new treatments; and the neurologic effects of illicit drug use. [books.google.com]

SPINRAZA was well-tolerated with no new safety concerns identified after up to nearly 4 years of treatment. [news.cision.com]

Treatment At present, there is no known treatment that will stop or reverse SMA. Physical therapy and orthopedic devices can help preserve walking function. Braces or surgery may also help to counteract scoliosis, or curvature of the spine. [christopherreeve.org]

Yet, immunoglobulin treatment is based on the assumption of inflammatory etiology of MMND, but not a proven treatment. Rarity of MNND in itself is an impediment for evolving a possible treatment. [rarediseasesindia.org]

Food and Drug Administration (FDA) approved Spinraza (nusinersen) for the treatment of SMA. [mda.org]

The older the age of onset, the better the prognosis! [amboss.com]

Deletions of NAIP gene were mainly seen in severely affected patients, hence is useful to predict prognosis. 1. Katirji B, Kaminski HJ, Preston DC, Ruff RL, Shapiro BE. Neuromuscular disorders in clinical practice. [annalsofian.org]

Complications Spinal deformity Joint contractures Respiratory infection Respiratory failure Prognosis Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care [patient.info]

Patients with dysphagia have a very poor prognosis; respiratory complications due to aspiration frequently result in death within 1 to 3 yr. In many cases, especially those with childhood onset, inheritance is autosomal recessive. [msdmanuals.com]

[…] disorder results in deterioration and irreversible damage within cerebral cortex and subcortical areas -Neurons normally involved with acetylcholine transmission deteriorate within the cerebral cortex -Amyloid plaques and neurofibrillary tangles -unknown etiology [quizlet.com]

Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)! [amboss.com]

TABLE 452-1 Etiology of Motor Neuron Disorders View Table | Favorite Table | Download (.pdf) TABLE 452-1 Etiology of Motor Neuron Disorders Diagnostic Category Investigation Structural lesions Parasagittal or foramen magnum tumors Cervical spondylosis [accessmedicine.mhmedical.com]

Inflammatory etiology in MMND is suggested. [rarediseasesindia.org]

Introduction to the disease Motor neuron disease (MND) or amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of unknown etiology. [explainmedicine.com]

Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

SMA with respiratory distress (SMARD1) Inheritance is autosomal recessive due to mutations in the IGHMBP2 gene on chromosome 11q13. [ 9 ] Epidemiology The estimated incidence is between 1 in 6,000 and 1 in 10,000 live births and the carrier frequency [patient.info]

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. [ncbi.nlm.nih.gov]

 Epidemiology: Incidence - 1 to 2.7/lakh Prevalence-2.7 to 7.4/lakh Sex predisposition-M>F(2:1 to 7:1)(*F>M in bulbar onset ALS) Age-Risk increases with age up to 74 years Geographical distribution-In regions likeChamorro people of Guam and Kii [slideshare.net]

Epidemiologic data suggest that smoking may be an established risk factor for sporadic ALS. [8] The peak age of onset is between 55 and 75 years. [emedicine.medscape.com]

Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)! [amboss.com]

The present review will examine LMN syndromes from a clinical perspective as well as providing an overview of current understanding of pathophysiological mechanisms. [jnnp.bmj.com]

Pathophysiology Spinal muscular atrophy (SMA) types I-III Inheritance is autosomal recessive. Affected individuals have two copies of the altered gene. Those who carry one copy are usually unaffected carriers. [patient.info]

The following algorithms are available in Special Instructions: -Inherited Motor Neuron Disease Testing Algorithm -Neuromuscular Myopathy Testing Algorithm Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they [mayomedicallaboratories.com]

Scientists hope to characterize the genes, study gene function and disease course, and find ways to prevent, treat, and, ultimately, cure these diseases. [christopherreeve.org]

Supportive therapy is aimed at preventing respiratory and orthopedic complications. Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

Medications that prevent calcium release in the muscle appear to prevent the attack and are given at the first sign of attack. After the onset of the attack, the anesthetic agent should be removed and the patient cooled. [britannica.com]

Your physiotherapist may suggest you try a standing frame which encourages equal weight bearing through both legs and can help prevent and reduce contractures. [smasupportuk.org.uk]

Respiratory infection Respiratory failure Prognosis Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care have enhanced quality of life and life expectancy. [ 16 ] Prevention [patient.info]