Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. [rarediseases.info.nih.gov]

2017 Source: GARD (NIH) 1 • • • Symptoms and clinical features of the condition may include: 2 Clinical Features of Gemignani syndrome : Abnormality of the testis Sensorineural hearing impairment Delayed puberty Hypopigmented skin patches Intellectual disability [familydiagnosis.com]

Abidi type syndromic X-linked intellectual disability Lubs type syndromic X-linked intellectual disability Siderius type Systemic Inflammatory Response Syndrome Tabatznik Syndrome Takao VCF Syndrome Takayasu's arteritis Takenouchi-Kosaki Syndrome Tamari [rgd.mcw.edu]

CNS involvement can be severe, with severe disability despite pSS treatment in 40% of the cases [ 11 ]. [em-consulte.com]

Signs and Symptoms Abnormality of the testis EMG abnormality Hemiplegia / hemiparesis Hyperreflexia Impaired pain sensation Incoordination Sensorineural hearing impairment Short stature Skeletal muscle atrophy Cognitive impairment Hypopigmented skin patches [familydiagnosis.com]

Symptoms - Gemignani syndrome * Muscle weakness * Muscle wasting * Deafness * Increased reflexes * Short stature Causes - Gemignani syndrome Muscle overuse Infections Flu Fluid loss Dehydration Electrolyte imbalance Muscle wasting Prevention - Gemignani [checkorphan.org]

stature Glaucoma iridogoniodysgenesia Glaucoma sleep apnea Glaucoma type 1C Glaucoma, congenital Glaucoma, hereditary adult type 1A Glaucoma, hereditary juvenile type 1B Glaucoma, hereditary Glaucoma, primary infantile type 3A Glaucoma, primary infantile [en.wikipedia.org]

Plummer-Vinson syndrome is found at upper end of esophagus(post cricoid region) and Schatzki ring may be found at the lower end of esophagus. [3] followig clinical presentations may use in the diagnosis of this condition.tg,ptl 25.04.2017.upgs 1.dizziness. 2.pallor [checkrare.com]

Patient 1: ‘Hidden behind pallor and jaundice’ A previously‐healthy 32‐year‐old woman complained of unusual fatigue for a fortnight and was admitted when anaemia was found. [academic.oup.com]

DELAY, AND TOOTH ENAMEL DEFECT SYNDROME hypotonia-cystinuria syndrome Hypotrichosis-Lymphedema-Telangiectasia Syndrome Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome Ichthyosis Cheek Eyebrow Syndrome Ichthyosis Follicularis [rgd.mcw.edu]

Syndrome cold-induced sweating syndrome Cole-Carpenter syndrome Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome compartment syndrome complex regional pain syndrome congenital central hypoventilation [rgd.mcw.edu]

Signs and Symptoms Abnormality of the testis EMG abnormality Hemiplegia / hemiparesis Hyperreflexia Impaired pain sensation Incoordination Sensorineural hearing impairment Short stature Skeletal muscle atrophy Cognitive impairment Hypopigmented skin patches [familydiagnosis.com]

skin patches Patchy loss of skin color 0001053 Hypoplasia of penis Underdeveloped penis 0008736 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Showing of 13 Last updated [rarediseases.info.nih.gov]

Signs and Symptoms Abnormality of the testis EMG abnormality Hemiplegia / hemiparesis Hyperreflexia Impaired pain sensation Incoordination Sensorineural hearing impairment Short stature Skeletal muscle atrophy Cognitive impairment Hypopigmented skin patches [familydiagnosis.com]

patches Patchy loss of skin color 0001053 Hypoplasia of penis Underdeveloped penis 0008736 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Showing of 13 Last updated: 12 [rarediseases.info.nih.gov]

Overview A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness. [checkorphan.org]

Fatigue is associated with muscle weakness in Ehlers-Danlos syndrome: an explorative study. Physiotherapy. 2011;97(2):170-174. [ PubMed ] 23. De W, Rombaut L, Leybaert L, et al. [therapath.com]

At 68 years old, he showed sensory ataxia in the legs and positive Romberg’s sign without muscle weakness. The deep tendon reflexes were almost absent. [jnnp.bmj.com]

[…] body height Small stature [ more ] 0004322 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 30%-79% of people have these symptoms Hypopigmented skin patches Patchy loss of skin color 0001053 Hypoplasia of penis Underdeveloped [rarediseases.info.nih.gov]

DYSPLASIA SYNDROME middle lobe syndrome Miles-Carpenter syndrome miliaria Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome mitochondrial DNA depletion syndrome 8A mixed connective tissue disease [rgd.mcw.edu]

Hypoplasia of penis Last updated: 1/1/2017 Source: GARD (NIH) 1 • • • Symptoms and clinical features of the condition may include: 2 Clinical Features of Gemignani syndrome : Abnormality of the testis Sensorineural hearing impairment Delayed puberty [familydiagnosis.com]

impairment 0000407 Short stature Decreased body height Small stature [ more ] 0004322 Skeletal muscle atrophy Muscle degeneration Muscle wasting [ more ] 0003202 30%-79% of people have these symptoms Hypopigmented skin patches Patchy loss of skin color [rarediseases.info.nih.gov]

Choung et al. [14] reported that if the vasculitis affecting the common cochlear artery aggravates over time, hearing impairment could occur suddenly or progressively. [ejo.eg.net]

Title Other Names: Spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness Categories: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. [rarediseases.info.nih.gov]

Overview A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness. [checkorphan.org]

GARD (NIH) 1 • • • Symptoms and clinical features of the condition may include: 2 Clinical Features of Gemignani syndrome : Abnormality of the testis Sensorineural hearing impairment Delayed puberty Hypopigmented skin patches Intellectual disability Ataxia [familydiagnosis.com]

Additionally, one of our patients developed localised unilateral sensory ataxia in the fingers, suggesting that some patients may develop localised sensory ataxia. [jnnp.bmj.com]

Homepage Rare diseases Search Search for a rare disease Gemignani syndrome Disease definition Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia [orpha.net]

Roach chaired the AHA panel that produced the consensus guidelines on childhood stroke and Drs. Lo and Heyer have published extensively on stroke and related topics [books.google.com]

Patients with RLS have been reported to have a higher risk of stroke and heart disease than those without the disorder. [healthrenewal.co.za]

International Behcet's Criteria: subcutaneous thrombophlebitis [inflammation of a vein beneath the skin] deep vein thrombosis [development of a blood clot] epididymitis [swelling and pain in one or both testicles] arterial occlusion and/or aneurysm [stroke [behcetsdisease.com]

Probiotic suppression of the H. pylori-induced responses by means of conjugated linoleic acids in a gastric epithelial stall stroke. [nhha.org]

Updates to genetics and circadian rhythms, occupational health, sleep in older people, memory and sleep, physical examination of the patient, comorbid insomnias, and much more keep you current on the newest areas of the field. [books.google.com]

Five other family members who died of this disease, which we termed "fatal familial insomnia," had broader neuropathologic changes suggesting that fatal familial insomnia could be a prion disease. Methods. [nejm.org]

Studies have suggested that shortened sleep and insomnia may increase the incidence and risk of hypertension and CVD. [healthrenewal.co.za]

Patients may experience orthostatic hypotension, hallucinations, dyskinesias, dizziness, and even insomnia. [clinicaladvisor.com]

Understand the various causes of this common movement and sleep disturbance and identify the best treatment options in each case. [books.google.com]

Obstructive sleep apnoea is often comorbid to RLS and PLMS and is established as a significant cause of sleep disturbance and risk factor for hypertension, CVD, and stroke. 6 What is the relationship between sleep disturbances, hypertension, and vascular [healthrenewal.co.za]

Restless legs syndrome and sleep disturbance during pregnancy: the role of folate and iron. J Womens Health Gend Based Med. 2001 May;10(4):335-41 Manconi M, Govoni V, De Vito A, Economou NT, Cesnik E, Mollica G, Granieri E. [vitalhealthzone.com]

Restless legs syndrome and sleep disturbance during pregnancy: the role of folate and iron. J Womens Health Gend Based Med. 2001;10(4):335–341. PubMed Neau JP, Marion P, Mathis S, et al. [cmeinstitute.com]

Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome? Neurology. 1998;51:1603-1607. 10. Yunus MB, Aldag JC. Restless legs syndrome and leg cramps in fibromyalgia syndrome: a controlled study. [clinicaladvisor.com]

Orpha Number: 2074 Disease definition Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism [rarediseases.info.nih.gov]

Homepage Rare diseases Search Search for a rare disease Gemignani syndrome Disease definition Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia [orpha.net]

Paraplegia and Evans Syndrome Spastic Paraplegia with Kallmann Syndrome SPOAN syndrome spondylocarpotarsal synostosis syndrome spondyloepimetaphyseal dysplasia, Strudwick type Spranger Schinzel Myers Syndrome STANKIEWICZ-ISIDOR SYNDROME Steel Syndrome [rgd.mcw.edu]

Spinal cord involvement may present also as a subacute progressive myelitis, with sensory symptoms, sphincter incontinence, and difficulty walking progressing to spastic paraplegia. Lower motor neuron disease forms are also described [ 51 ]. [em-consulte.com]