Symptoma

Distal Spinal Muscular Atrophy Type 4

Autosomal Recessive Distal Spinal Muscular Atrophy Type 4

His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them. [books.google.com]

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]

  • 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]

    disorders due to brain damage that are non-progressive and acquired in utero, during birth or after infancy -Etiology, can occur before or during birth secondary to lack of oxygen, maternal infections, drug or alcohol abuse, placental abnormalities, [quizlet.com]

  • Proximal Muscle Weakness

    LGMD2L (anoctominopathy) Affected individuals were reported to have proximal muscle weakness in lower and upper limbs and muscle hypertrophy was common. Intelligence was reported to be normal. [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]

    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 distal (generalized) Sensory [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]

    Still others, such as corticosteroids (used to reduce inflammation), affect the muscle metabolism; this is particularly true of the fluoro-substituted corticosteroids, which cause increased catabolism and thereby produce proximal muscle weakness especially [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]

  • Back Pain

    pain and psychosocial interactions, biomechanics, and more. [books.google.com]

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

  • Behavior Disorder

    brain tumors), including cerebrovascular diseases, dementias and behavioral disorders, demyelinating disorders, and disorders of consciousness and brain death. [books.google.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]

    […] 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 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]

  • Quadriplegia

    Examination reveals upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia, without dementia, cerebellar, extrapyramidal, or sensory signs. [cmm.ucsd.edu]

  • Involuntary Movements

    Find the answers you need on the hottest topics in neurology, including involuntary movement disorders; single gene mutations with neuropsychiatric manifestations; psychiatric comorbidity of neurologic illnesses and treatments; deep brain stimulation [books.google.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]

The mainstay of treatment is supportive measures (eg, multidisciplinary support to help cope with disability; drug treatment for symptoms such as spasticity, cramps, and pseudobulbar affect). Click here for Patient Education [msdmanuals.com]

Management There is currently no effective curative treatment. [ 11 ] There is no proven effective drug treatment for SMA. [ 12, 13 ] However, scientific and clinical advances are currently heading towards developing effective treatment(s) for people [patient.info]

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 Chiari [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]