Autosomal Recessive Spastic Paraplegia Type 23
atrophy and related syndromes G12.0 Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] G12.1 Other inherited spinal muscular atrophy G12.2 Motor neuron disease G12.21[icd10data.com]
atrophy Autosomal recessive distal spinal muscular atrophy type 1 Autosomal recessive distal spinal muscular atrophy type 2 Autosomal recessive distal spinal muscular atrophy[orpha.net]
SPG17 Silver syndrome Mutation in Gene BSCL2 Seipin protein Phenotype overlapping with distal spinal muscular atrophy type VA Locus 11q13 Autosomal dominant 15.[slideshare.net]
Hyperthyroidism
[…] hyperpigmentation and vitiligo. 19 Laboratory and Radiographic Assessment Clinical suspicion of hyperthyroidism should prompt laboratory testing ( Figure 1 20 – 23 ) .[aafp.org]
vitiligo can also be observed in Graves disease Hypermetabolism Weight loss in spite of increased appetite, fever (in thyroid storm) Neuromuscular Brisk peripheral reflexes[aafp.org]
[…] acropachy, an uncommon sign, is the clubbing of fingers and toes with soft-tissue swelling of the hands and feet. 19 Other skin manifestations of Graves disease include patchy[aafp.org]
Addison's Disease
Cause The most common cause of Addison’s disease is idiopathic autoimmune adrenal atrophy.[symptoma.com]
Addison's disease can present with tanning of the skin that may be patchy or even all over the body.[en.wikipedia.org]
Muscular fatigue and weakness are fairly common with hyperpigmentation of the skin. Signs of hypotension and hypoglycemia may also be observable.[symptoma.com]
Vitiligo
Systemic adverse effects are also present, the most severe are: adrenal axis ad growth inhibition, Cushing’s Syndrome and muscular atrophy.[omicsonline.org]
Vitiligo is an acquired condition where there is patchy loss of melanin from the epidermis, causing areas of pale skin.[patient.info]
Vitiligo may occur in the same areas on both sides of the face or it may be patchy.[mountsinai.org]
Acne Vulgaris
Biogen intends to study the agents in several neuromuscular indications including spinal muscular atrophy and amyotrophic lateral sclerosis [ 18 ].[doi.org]
Vitiligo Vitiligo is characterized by patchy loss of pigment in the skin. The affected areas can be lighter than surrounding skin, or can even turn completely white.[dermrochester.com]
Biogen has already launched modified antisense oligonucleotide nusinersen (Spinraza ) for spinal muscular atrophy and has an investigational agent (BIIB067) for amyotrophic[doi.org]
Uveomeningoencephalitic Syndrome
Atrophy, Infantile: (see Spinal Muscular Atrophies of Childhood) Spinal Muscular Atrophy, Juvenile: (see Spinal Muscular Atrophies of Childhood) Spinal Osteophytosis: 0.10[drhuldaclarkzappers.wordpress.com]
It is characterized by bilateral uveitis and retinal detachment and is variably associated with patchy vitiligo, alopecia, hearing loss, tinnitus, headaches, and meningismus[ajnr.org]
Atrophies of Childhood Sturge-Weber Syndrome Sweating, Gustatory Sweet's Syndrome Takayasu's Arteritis Tangier Disease Tay-Sachs Disease Thromboangiitis Obliterans Tietze's[diet-and-health.net]
Juvenile Myxedema
atrophy, complex regional pain syndrome, disorders of DNA translation, the immune restoration inflammatory syndrome (IRIS), and Hashimoto encephalopathy.[books.google.de]
Vitiligo is a patchy loss of skin color due to destruction of pigment cells (melanocytes) from an unknown cause.[ktthebest4u.blogspot.com]
[…] syndromes, Lewy body dementias, frontotemporal dementia, vanishing white matter, vasculitis, normal pressure hydrocephalus, neuromyelitis optica, Kennedy disease, spinal muscular[books.google.de]
Hashitoxicosis
atrophy Spinal stenosis Spinocerebellar ataxia Spleen Splenic rupture Splenomegaly Spondylolisthesis Sports injuries Staphylococcal diseases Staphylococcal scalded skin syndrome[amboss.com]
(patchy loss of pigmentation in skin) Weakness in muscles of shoulder girdle and large muscles of the thighs Weight loss or gain (rapid) And, for whatever it's worth, you[dailystrength.org]
Sodium disorders Soft tissue lesions of the shoulder Somatic symptom and related disorders Spasticity Specialized nutrition support Spinal cord tracts and reflexes Spinal muscular[amboss.com]
Syndromic Microphthalmia Type 10
, spinal muscular atrophy, congenital benign, with contractures;autosomal dominant benign distal spinal muscular atrophy; congenital benign spinal muscular atrophy with contractures[mendelian.co]
In addition, some affected individuals have irregular patchy skin regions that lack pigmentation (leukoderma or vitiligo), particularly on the face and arms.[rarediseases.org]
The following genes are required for Invitae carrier screening and will be added to your order, CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), FMR1 (fragile X syndrome[invitae.com]
Scleroderma
[…] fascia, with perivascular and focal interstitial lymphocytic and plasma cell infiltrate in subcutaneous fat Frequent atrophy of adnexal structures, increased fibroblasts,[pathologyoutlines.com]
An EEG at that time was normal, but a brain MRI showed patchy signal changes in the left frontal lobe and biparietal paraventricular region.[pediatrics.aappublications.org]
Image hosted on other servers: Dermal sclerosis Microscopic (histologic) description Thickening and hyalinization of connective tissue of deep dermis, subcutaneous fat and muscular[pathologyoutlines.com]