Biomaterial Database

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. 1984

F B Axelrod, and J Pearson

Among congenital sensory neuropathies there are several variants that share features of diminished pain sensitivity and/or autonomic dysfunction with familial dysautonomia but can be shown to be distinct from this entity by clinical and pathologic criteria. Recognition of the unique nature of each disease type is an essential prerequisite for genetic and causative studies. We reviewed the diagnostic tests that can be used in the clinical evaluation of sensory and autonomic function. Based on this process of evaluation, we studied 13 patients who were initially considered to have familial dysautonomia but who were later shown to have five distinct syndromes that were confirmed by neuropathologic studies.

UI	MeSH Term	Description	Entries
D007007	Hypohidrosis	Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions.	Anhidrosis
D008297	Male		Males
D009477	Hereditary Sensory and Autonomic Neuropathies	A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)	HSAN,HSAN Type I,HSAN Type II,HSAN Type IV,HSAN Type V,HSN Type I,HSN Type II,Insensitivity to Pain with Anhidrosis, Congenital,Neuropathies, Hereditary Sensory and Autonomic,Pain Insensitivity with Anhidrosis, Congenital,Sensory Neuropathy, Hereditary,Sensory and Autonomic Neuropathies, Hereditary,Acroosteolysis, Giaccai Type,Acroosteolysis, Neurogenic,Congenital Insensitivity to Pain with Anhidrosis,Familial Dysautonomia, Type 2,Familial Dysautonomia, Type II,Giaccai Type Acroosteolysis,HSAN (Hereditary Sensory Autonomic Neuropathy),HSAN 1,HSAN 4,HSAN 5,HSAN I,HSAN IV,HSAN V,HSAN2,HSAN5,HSANII,Hereditary Sensory And Autonomic Neuropathy IV,Hereditary Sensory Autonomic Neuropathy, Type 1,Hereditary Sensory Autonomic Neuropathy, Type 2,Hereditary Sensory Autonomic Neuropathy, Type 4,Hereditary Sensory Autonomic Neuropathy, Type 5,Hereditary Sensory Neuropathy Type 1,Hereditary Sensory Neuropathy Type I,Hereditary Sensory Neuropathy Type Ia,Hereditary Sensory Radicular Neuropathy,Hereditary Sensory Radicular Neuropathy, Recessive Form,Hereditary Sensory and Autonomic Neuropathy 4,Hereditary Sensory and Autonomic Neuropathy Type 1,Hereditary Sensory and Autonomic Neuropathy Type 2,Hereditary Sensory and Autonomic Neuropathy Type I,Hereditary Sensory and Autonomic Neuropathy Type II,Hereditary Sensory and Autonomic Neuropathy Type IV,Hereditary Sensory and Autonomic Neuropathy Type V,Hereditary Sensory and Autonomic Neuropathy, Type 4,Hereditary Sensory and Autonomic Neuropathy, Type 5,Insensitivity to Pain, Congenital, with Anhidrosis,Neurogenic Acroosteolysis,Neuropathy Hereditary Sensory Radicular, Autosomal Dominant,Neuropathy Hereditary Sensory and Autonomic Type 1,Neuropathy, Congenital Sensory,Neuropathy, Congenital Sensory, with Anhidrosis,Neuropathy, Hereditary Sensory And Autonomic, Type I,Neuropathy, Hereditary Sensory And Autonomic, Type V,Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant,Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive,Neuropathy, Hereditary Sensory, Type I,Neuropathy, Progressive Sensory, Of Children,Acroosteolyses, Neurogenic,Congenital Sensory Neuropathies,Congenital Sensory Neuropathy,HSANs (Hereditary Sensory Autonomic Neuropathy),HSN Type IIs,Hereditary Sensory Neuropathies,Hereditary Sensory Neuropathy,Neurogenic Acroosteolyses,Neuropathies, Congenital Sensory,Neuropathies, Hereditary Sensory,Neuropathy, Hereditary Sensory,Sensory Neuropathies, Congenital,Sensory Neuropathies, Hereditary,Sensory Neuropathy, Congenital,Type I, HSAN,Type I, HSN,Type IV, HSAN
D012021	Reflex, Abnormal	An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.	Hyperreflexia,Hyporeflexia,Abnormal Deep Tendon Reflex,Abnormal Reflex,Abnormal Reflexes,Bulbocavernosus Reflex, Decreased,Bulbocavernousus Reflex Absent,Hoffman's Reflex,Palmo-Mental Reflex,Reflex, Absent,Reflex, Acoustic, Abnormal,Reflex, Anal, Absent,Reflex, Anal, Decreased,Reflex, Ankle, Abnormal,Reflex, Ankle, Absent,Reflex, Ankle, Decreased,Reflex, Biceps, Abnormal,Reflex, Biceps, Absent,Reflex, Biceps, Decreased,Reflex, Corneal, Absent,Reflex, Corneal, Decreased,Reflex, Decreased,Reflex, Deep Tendon, Abnormal,Reflex, Deep Tendon, Absent,Reflex, Gag, Absent,Reflex, Gag, Decreased,Reflex, Knee, Abnormal,Reflex, Knee, Decreased,Reflex, Moro, Asymmetric,Reflex, Pendular,Reflex, Triceps, Abnormal,Reflex, Triceps, Absent,Reflex, Triceps, Decreased,Reflexes, Abnormal,Absent Reflex,Decreased Bulbocavernosus Reflex,Decreased Reflex,Palmo Mental Reflex,Pendular Reflex,Reflex Absent, Bulbocavernousus,Reflex, Decreased Bulbocavernosus,Reflex, Hoffman's,Reflex, Palmo-Mental
D001842	Bone and Bones	A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principal cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.	Bone Tissue,Bone and Bone,Bone,Bones,Bones and Bone,Bones and Bone Tissue,Bony Apophyses,Bony Apophysis,Condyle,Apophyses, Bony,Apophysis, Bony,Bone Tissues,Condyles,Tissue, Bone,Tissues, Bone
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004402	Dysautonomia, Familial	An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)	HSAN Type III,Hereditary-Sensory and Autonomic Neuropathy Type III,Neuropathy, Hereditary and Autonomic, Type III,Riley-Day Syndrome,Dominant Hereditary Sensory Neuropathy, Type III,Familial Dysautonomia,HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III,HSAN 3,HSAN III,HSAN3,HSN-III,Hereditary Sensory Neuropathy Type 3,Hereditary Sensory Neuropathy, Dominant, Type 3,Hereditary Sensory Neuropathy, Dominant, Type III,Hereditary Sensory Neuropathy, Type 3, Dominant,Hereditary Sensory and Autonomic Neuropathy 3,Neuropathy, Hereditary Sensory And Autonomic, Type III,Type 3 Hereditary Sensory Neuropathy, Dominant,Type III Hereditary Sensory Neuropathy, Dominant,Hereditary Sensory and Autonomic Neuropathy Type III,Riley Day Syndrome
D005260	Female		Females
D006632	Histamine	An amine derived by enzymatic decarboxylation of HISTIDINE. It is a powerful stimulant of gastric secretion, a constrictor of bronchial smooth muscle, a vasodilator, and also a centrally acting neurotransmitter.	Ceplene,Histamine Dihydrochloride,Histamine Hydrochloride,Peremin
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man