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Progressive demyelinating neuropathy with bilateral striatal necrosis(THMD4)

MedGen UID:: 462323
•Concept ID:: C3150973
•: Disease or Syndrome

Synonyms:	BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY; Striatal necrosis, bilateral, and progressive polyneuropathy; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type); THMD4
SNOMED CT:	Progressive polyneuropathy with bilateral striatal necrosis (771305006)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLC25A19 (17q25.1)

Monarch Initiative:	MONDO:0013382
OMIM®:	613710
Orphanet:	ORPHA217396

Definition

Thiamine metabolism dysfunction syndrome-4 is an autosomal recessive metabolic disorder characterized by childhood onset of episodic encephalopathy, often associated with a febrile illness, and causing transient neurologic dysfunction. Most patients recover fully, but some may have mild residual weakness. Affected individuals also develop a slowly progressive axonal polyneuropathy beginning in childhood. Brain imaging during the acute episodes shows lesions consistent with bilateral striatal degeneration or necrosis (summary by Spiegel et al., 2009). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270). [from OMIM]

Clinical features

From HPO

Talipes equinovarus

MedGen UID:: 3130
•Concept ID:: C0009081
•: Congenital Abnormality

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

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Lethargy

MedGen UID:: 7310
•Concept ID:: C0023380
•: Sign or Symptom

A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.

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Paralysis

MedGen UID:: 105510
•Concept ID:: C0522224
•: Finding

Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.

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Hyporeflexia

MedGen UID:: 195967
•Concept ID:: C0700078
•: Finding

Reduction of neurologic reflexes such as the knee-jerk reaction.

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Increased CSF lactate

MedGen UID:: 257904
•Concept ID:: C1167918
•: Finding

Increased concentration of lactate in the cerebrospinal fluid.

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Peripheral axonal neuropathy

MedGen UID:: 266071
•Concept ID:: C1263857
•: Disease or Syndrome

An abnormality characterized by disruption of the normal functioning of peripheral axons.

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Distal sensory impairment

MedGen UID:: 335722
•Concept ID:: C1847584
•: Finding

An abnormal reduction in sensation in the distal portions of the extremities.

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Muscle weakness

MedGen UID:: 57735
•Concept ID:: C0151786
•: Finding

Reduced strength of muscles.

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Difficulty walking

MedGen UID:: 86319
•Concept ID:: C0311394
•: Finding

Reduced ability to walk (ambulate).

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Distal muscle weakness

MedGen UID:: 140883
•Concept ID:: C0427065
•: Finding

Reduced strength of the musculature of the distal extremities.

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Skeletal muscle atrophy

MedGen UID:: 892680
•Concept ID:: C0541794
•: Pathologic Function

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

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Lower-limb joint contracture

MedGen UID:: 395285
•Concept ID:: C1859523
•: Anatomical Abnormality

A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.

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