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]

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

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

In females, having two X chromosomes, the mutation must be present on both chromosomes for the process is revealed. Therefore, the process is more common in men than in women. [ivami.com]

Your GP can refer you to a neurologist in your area and they can take a blood test to establish if KD is present. [kd-uk.com]

• Progressive Dysphagia

  With disease progression, dysphagia and neck flexor weakness can develop along with respiratory muscle weakness. Myositis is nonspecific and can be a manifestation of a number of other related conditions [ 1 – 4 ]. [bmcresnotes.biomedcentral.com]

• Tongue Muscle Weakness

  These early symptoms include: · Weakness/cramps in arm and leg muscles (proximal distal) · Face, mouth, and tongue muscle weakness · Difficulty with speaking and swallowing (dysphagia) · Twitching (Fasciculations) · Tremors and trembling in certain positions [rarediseases.org]

• Neurologic Manifestation

  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 Leuprolide [clinicaltrials.gov]

• Myokymia

  Muscle cramps, fasciculations, and characteristic perioral myokymia may precede the onset of weakness and wasting. [bmcresnotes.biomedcentral.com]

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]

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]

Condition or disease Intervention/treatment Phase Spinal Muscular Atrophy Amyotrophic Lateral Sclerosis Spinobulbar Muscular Atrophy Drug: leuprolide Drug: testosterone Phase 2 Detailed Description: PROTOCOL OUTLINE: All patients receive androgen suppression [clinicaltrials.gov]

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]

Research into possible treatments is ongoing. [medic8.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]

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]

He was counseled about the diagnosis, mode of inheritance, course, and prognosis. [bmcresnotes.biomedcentral.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]

Epidemiology Frequency United States The estimated incidence is approximately 1 case in 40,000 men. [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]

Other investigators have also reviewed CAG repeats in KD. [31, 32] A number of molecular pathophysiologic studies of the androgen receptor have been conducted to clarify its role in the pathogenesis of KD. [33, 18, 34, 35, 36, 37, 38, 39] Androgen-receptor [emedicine.medscape.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 defective motor neurons eventually die and this prevents effective muscle contraction, leading to weakness and a restricted range of movement. [medic8.com]

When we overexpressed the small heat shock protein B8, a molecular chaperone that prevents aggregate ARpolyQ formation in motorneuronal model of the disease, we observed a reduction in ARpolyQ aggregation also in muscle cells. [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]