Hereditary spastic paraplegia 19(SPG19)

MedGen UID:: 335494
•Concept ID:: C1846685
•: Disease or Syndrome

Synonyms:	Spastic paraplegia 19; SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT
SNOMED CT:	Autosomal dominant spastic paraplegia type 19 (763375003)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0011785
OMIM®:	607152
Orphanet:	ORPHA100999

Definition

A pure form of hereditary spastic paraplegia with characteristics of a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. [from SNOMEDCT_US]

Clinical features

From HPO

Urinary incontinence

MedGen UID:: 22579
•Concept ID:: C0042024
•: Finding

Loss of the ability to control the urinary bladder leading to involuntary urination.

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Urinary urgency

MedGen UID:: 39315
•Concept ID:: C0085606
•: Finding

Urge incontinence is the strong, sudden need to urinate.

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Urinary bladder sphincter dysfunction

MedGen UID:: 334804
•Concept ID:: C1843663
•: Finding

Abnormal function of a sphincter of the urinary bladder.

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Ankle clonus

MedGen UID:: 68672
•Concept ID:: C0238651
•: Finding

Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.

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Lower limb muscle weakness

MedGen UID:: 324478
•Concept ID:: C1836296
•: Finding

Weakness of the muscles of the legs.

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Babinski sign

MedGen UID:: 19708
•Concept ID:: C0034935
•: Finding

Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.

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Spastic paraplegia

MedGen UID:: 20882
•Concept ID:: C0037772
•: Disease or Syndrome

Spasticity and weakness of the leg and hip muscles.

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Hyperreflexia

MedGen UID:: 57738
•Concept ID:: C0151889
•: Finding

Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

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Spastic gait

MedGen UID:: 115907
•Concept ID:: C0231687
•: Finding

Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.

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Knee clonus

MedGen UID:: 488908
•Concept ID:: C0520823
•: Finding

Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.

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Lower limb spasticity

MedGen UID:: 220865
•Concept ID:: C1271100
•: Finding

Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis

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Impaired vibration sensation in the lower limbs