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Spastic paraplegia 83, autosomal recessive(SPG83)

MedGen UID:: 1759445
•Concept ID:: C5436637
•: Disease or Syndrome

Synonyms:	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83

Gene (location): Gene(s) directly associated with this condition or phenotype.	HPDL (1p34.1)

Monarch Initiative:	MONDO:0033614
OMIM®:	619027

Definition

Autosomal recessive spastic paraplegia-83 (SPG83) is a neurologic disorder characterized by progressive lower limb spasticity resulting in gait instability. Patients develop symptoms in the second decade, consistent with juvenile onset. Some patients may have myalgia or mild dysarthria, but the phenotype is considered to be a pure type of SPG with no additional neurologic abnormalities (summary by Husain et al., 2020). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

Clinical features

From HPO

Myalgia

MedGen UID:: 68541
•Concept ID:: C0231528
•: Sign or Symptom

Pain in muscle.

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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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Dysphagia

MedGen UID:: 41440
•Concept ID:: C0011168
•: Disease or Syndrome

Difficulty in swallowing.

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Paresthesia

MedGen UID:: 14619
•Concept ID:: C0030554
•: Disease or Syndrome

Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.

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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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Unsteady gait

MedGen UID:: 68544
•Concept ID:: C0231686
•: Finding

A shaky or wobbly manner of walking.

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Gait ataxia

MedGen UID:: 155642
•Concept ID:: C0751837
•: Sign or Symptom

A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.

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Lower limb hyperreflexia

MedGen UID:: 322973
•Concept ID:: C1836696
•: Finding

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Muscle spasm

MedGen UID:: 52431
•Concept ID:: C0037763
•: Sign or Symptom

Sudden and involuntary contractions of one or more muscles.

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Abnormality of the digestive system
- Dysphagia
Abnormality of the genitourinary system
- Urinary urgency
Abnormality of the musculoskeletal system
- Muscle spasm
Abnormality of the nervous system
Constitutional symptom
- Myalgia

Recent clinical studies

Etiology

Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.

Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

Sánchez-Ferrero E, Coto E, Beetz C, Gámez J, Corao AI, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual-Pascual SI, López de Munaín A, Garcia-Barcina MJ, Alvarez V; Genetics of Spastic Paraplegia study group
Clin Genet 2013 Mar;83(3):257-62. Epub 2012 May 21 doi: 10.1111/j.1399-0004.2012.01896.x. PMID: 22571692

The distal hereditary motor neuropathies.

Rossor AM, Kalmar B, Greensmith L, Reilly MM
J Neurol Neurosurg Psychiatry 2012 Jan;83(1):6-14. Epub 2011 Oct 25 doi: 10.1136/jnnp-2011-300952. PMID: 22028385

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia
BMC Neurol 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89. PMID: 20932283 Free PMC Article

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Diagnosis

Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.

Klebe S, Stevanin G, Depienne C
Rev Neurol (Paris) 2015 Jun-Jul;171(6-7):505-30. Epub 2015 May 23 doi: 10.1016/j.neurol.2015.02.017. PMID: 26008818

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

The distal hereditary motor neuropathies.

Rossor AM, Kalmar B, Greensmith L, Reilly MM
J Neurol Neurosurg Psychiatry 2012 Jan;83(1):6-14. Epub 2011 Oct 25 doi: 10.1136/jnnp-2011-300952. PMID: 22028385

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H
Am J Hum Genet 2008 Jul;83(1):30-42. Epub 2008 Jun 19 doi: 10.1016/j.ajhg.2008.05.016. PMID: 18571143 Free PMC Article

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