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]

• Vascular Disease

  Thus, a careful medical history and clinical examination are necessary to exclude all other conditions that may cause similar symptoms, which include ALS, multiple sclerosis, collagen vascular diseases, depression, hypothyroidism, myasthenia gravis, inclusion [emedicine.medscape.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]

• 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]

• Myelopathy

  […] foramen magnum tumors Cervical spondylosis Chiari malformation of syrinx Spinal cord arteriovenous malformation MRI scan of head (including foramen magnum and cervical spine) Infections Bacterial—tetanus, Lyme Viral—poliomyelitis, herpes zoster Retroviral—myelopathy [accessmedicine.mhmedical.com]

   Differentiated from ALS mimickers- Paraneoplastic Hyperthyroidism Parathormone dysfunction Vit B12 Deficiency HIV Infection(may present with flail arm syndrome) Cervical spondylotic myelopathy(MRI helpful) Myeloradiculopathy Multiple Sclerosis [slideshare.net]

  This condition needs to be differentiated from all other disorders with restricted bilateral UMND; MS, spinal cord compression by spondylosis or meningioma, myelopathic form of ALD, tropical spastic paraparesis, HIV myelopathy and HSP. [neuroweb.us]

  Pathological studies have demonstrated focal degeneration restricted to anterior horn cells in MMA. 43 It has been postulated that upper extremity MMA may be a myelopathy related to flexion movements of the neck with resultant ischaemic damage to the [jnnp.bmj.com]

  These include the following: Structural spinal cord disorders (compressive lesions at the foramen magnum or cervical spinal cord), such as cervical spondylotic myelopathy, Arnold-Chiari malformation, or tumors Pure (uncomplicated) HSP Metabolic disorders [emedicine.medscape.com]

• Waddling Gait

  Weakness of the hip and upper leg muscles may cause a distinctive waddling gait. Eventually, muscle weakness affects the muscles of the upper arms and shoulders (limb-girdle area). [rarediseases.org]

  Eight patients exhibited waddling gait. Only one was in a wheelchair; the others could walk without assistance. Cramps and postural tremor were not observed. Symptom onset was after 45 years old in four of five families. [scielo.br]

  The leg weakness frequently causes “foot drop” and a waddling gait. [britannica.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]

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

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

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]