A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The ph

Diaphragmatic spinal muscular atrophy type 2

Autosomal dominant benign distal spinal muscular atrophy

Disease with characteristics of muscle weakness and atrophy in the lower limbs, most severely affecting the quadriceps. The loss of motor neurons leads to atrophy of the muscles in the lower limbs with manifestations including unsteady walk and walki

Autosomal recessive distal spinal muscular atrophy 1

Distal hereditary motor neuropathy Jerash type

Amyotrophy caused by herpes zoster

Modifiers The following fourth-character subdivisions are for use with categories E10-E14: Code Title .0 With coma Diabetic:coma with or without ketoacidosis | hyperosmolar coma | hypoglycaemic coma | Hyperglycaemic coma NOS .1 With ketoacidosis Diabetic:acidosis | ketoacidosis | without mention of coma | .2+ With renal complications Diabetic nephropathy (N08.3*) Intracapillary glomerulonephrosis (N08.3*) Kimmelstiel-Wilson syndrome (N08.3*) .3+ With ophthalmic complications Diabetic:cataract (H28.0*) | retinopathy (H36.0*) | .4+ With neurological complications Diabetic:amyotrophy (G73.0*) | autonomic neuropathy (G99.0*) | mononeuropathy ...[+++] (G59.0*) | polyneuropathy (G63.2*) autonomic (G99.0*) | .5 With peripheral circulatory complications Diabetic:gangrene | peripheral angiopathy+ (I79.2*) | ulcer | .6 With other specified complications Diabetic arthropathy+ (M14.2*) Neuropathic diabetic arthropathy+ (M14.6*) .7 With multiple complications .8 With unspecified complications .9 Without complications | Diabetic:coma with or without ketoacidosis | hyperosmolar coma | hypoglycaemic coma | Hyperglycaemic coma NOS | Diabetic:acidosis | ketoacidosis | without mention of coma | Diabetic nephropathy (N08.3*) Intracapillary glomerulonephrosis (N08.3*) Kimmelstiel-Wilson syndrome (N08.3*) | Diabetic:cataract (H28.0*) | retinopathy (H36.0*) | Diabetic:amyotrophy (G73.0*) | autonomic neuropathy (G99.0*) | mononeuropathy (G59.0*) | polyneuropathy (G63.2*) autonomic (G99.0*) | Diabetic:gangrene | peripheral angiopathy+ (I79.2*) | ulcer | Diabetic arthropathy+ (M14.2*) Neuropathic diabetic arthropathy+ (M14.6*)

Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive defic

Amyotrophia Extrapyramidal Aphasia Lobar cerebral syndromes Other

For many rare diseases, signs may be observed at birth or in childhood, as in proximal spinal muscular atrophy, neurofibromatosis, osteogenesis imperfecta, chondrodysplasia or Rett syndrome.

Dr. Kothary's current research focuses on studying the fundamental role of a cytoskeletal linker protein important for intracellular trafficking, investigating signal transduction pathways important for oligodendrocyte mediated myelination and remyelination of the CNS, and understanding Spinal Muscular Atrophy pathogenesis and identifying novel therapeutics for this devastating children's disease.

Inactivity can also exacerbate muscle wasting and joint stiffness, which further limit their physical function.