This case presented with 2 rare genetic neuromuscular disorders and the atypical HNPP phenotype. [ncbi.nlm.nih.gov]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]

Case presentation We present the case of a 52-year-old Filipino man with chronic weakness involving his proximal muscle groups who carried the diagnosis of polymyositis and was refractory to multiple immunomodulatory therapies. [bmcresnotes.biomedcentral.com]

Classification Type Name Presentation Prognosis Type I Acute Werdnig-Hoffman disease • Present at < 6 months • Absent DTR • Tongue fasciculations Poor, usually die by 2 yrs. [orthobullets.com]

In some cases, the symptoms are similar to other syndromes and the test can help to determine which syndrome is present. [medic8.com]

• Tongue Atrophy

  The neurological exam was positive for lower facial weakness with evidence of myokymia in the chin muscles and tongue atrophy with fasciculations. [bmcresnotes.biomedcentral.com]

• Abnormal Eye Movement

  Abnormal eye movements in Kennedy disease. Neurology. 2009 Apr 28. 72(17):1528-30. [Medline]. [Full Text]. Rocchi C, Greco V, Urbani A, Di Giorgio A, Priori M, Massa R. [emedicine.medscape.com]

• Tongue Muscle Weakness

  Affected individuals will show signs of twitching, often in the tongue and/or hand, followed by muscle weakness and problems with facial muscles. [rarediseases.org]

• Neurologic Manifestation

  Neurologic Manifestations Signs and Symptoms Heredodegenerative Disorders, Nervous System Genetic Diseases, X-Linked Genetic Diseases, Inborn Testosterone Testosterone undecanoate Testosterone enanthate Testosterone 17 beta-cypionate Methyltestosterone [clinicaltrials.gov]

Muscle pathology Twenty patients underwent muscle biopsy as part of the diagnostic workup. [jnnp.bmj.com]

Laboratory workup during the visit may include a complete blood count, comprehensive metabolic panel, carnitine profile, quantitative plasma and urine amino acids, amylase and lipase. [pediatricmotordisorders.org]

Abstract There is no curative treatment for most neuromuscular disorders. Exercise, as a treatment for these diseases, has therefore received growing attention. [ncbi.nlm.nih.gov]

He then received IVIG treatment at a dose of 2 g/kg on 5/31/2011, divided over 3 days. The patient indicated no improvement similar to the prior treatments with prednisone and multiple immunosuppressive medications. [bmcresnotes.biomedcentral.com]

Patients with Kennedy disease generally live a normal lifespan, despite the fact there are no treatments currently available to halt the slow progression of the disorder. [medlink.com]

Standard Therapies Treatment Currently, there is no known treatment or cure for Kennedy disease. Physical therapy, occupational therapy, and speech therapy are commonly used to adapt to the progressing disease and maintain an individual’s skills. [rarediseases.org]

prognosis of these patients 7,8. [radiopaedia.org]

Prognosis • Prognosis varies depending on the type of SMA. • SMA type 1 & 2 and SMA type 0 are fatal. • Kennedy’s disease Course varies and slowly progressive. Ambulatory until late in the disease. [slideshare.net]

Prognosis The prognosis for spinal muscular atrophy is variable. Life expectancy is dependent on the degree of respiratory impairment present. [healthofchildren.com]

The prognosis for Kennedy’s disease is fairly positive. In most cases, life expectancy is normal. However, around 1 in 10 people die in their 60s or 70s as a result of complications related to difficulty swallowing, choking and pneumonia. [medic8.com]

結節性硬化症 Tuberous sclerosis complex （TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159. [cell.brc.riken.jp]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Most cases of ALS are sporadic, having unknown etiology. Only 5% to 10% of patients have familial ALS, which is most commonly transmitted in an autosomal dominant fashion. [clinicalgate.com]

Polyglutamine expansion of the androgen receptor causes SBMA through poorly defined cellular and molecular etiology. [frontiersin.org]

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]

This genomic organization provides a therapeutic pathway to promote SMN2, existing in all patients, to function like the missing SMN1 gene. [10] Epidemiology Frequency United States The spinal muscular atrophies are the second most common autosomal-recessive [emedicine.medscape.com]

In this updated article, the author summarizes the latest research on Kennedy disease, with particular emphasis on insights into its natural history, pathophysiological mechanisms, and potential therapeutic strategies. [medlink.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test X-linked spinal and bulbar muscular atrophy (spinobulbar muscular atrophy: SBMA; or Kennedy disease) is characterized by onset [mayomedicallaboratories.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]

Pathophysiology In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron ( SMN ), was discovered. [9] Each individual has 2 SMN genes, SMN1 and SMN2. [emedicine.medscape.com]

Females are rarely affected; female carriers tend to have a relatively mild expression of the disease if they show symptoms at all. [2] Pathophysiology [ edit ] The mechanism behind SBMA is caused by expansion of a CAG repeat in the first exon of the [en.wikipedia.org]

In addition. it has already been demonstrated that the over expression of several Heat shock proteins (Hsps) prevents aggregation of mutant proteins addressing them to a rapid degradation. [air.unimi.it]

SMA cannot be prevented, but prospective parents can request genetic testing if they may be carriers. Types There are different types of SMA. [medicalnewstoday.com]

• Complications include Scoliosis and Joint contractures Chronic shortening of muscles or tendons around joints Caused by abnormal muscle tone and weakness, Which prevents the joints from moving freely. • Individuals with SMA type III may be prone to [slideshare.net]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]

Prevention There is no way to prevent spinal muscular atrophy. However, genetic counseling is crucial so that parents can make informed decisions about having children. [healthofchildren.com]