Hyperreflexia, and Proximal muscle weakness

Diseases related with Hyperreflexia and Proximal muscle weakness

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Proximal muscle weakness that can help you solving undiagnosed cases.

Top matches:

Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41 Is also known as spg41

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hyperreflexia
  • Proximal muscle weakness
  • Spastic paraplegia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41

Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73 Is also known as spg73

Related symptoms:

  • Seizures
  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73

Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Other less relevant matches:

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.

MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as maternally-inherited cpeo|mtdna-related progressive external ophthalmoplegia|maternally-inherited chronic progressive external ophthalmoplegia

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Autosomal dominant spastic paraplegia type 31 (SPG31) is a type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31 Is also known as spg31

Related symptoms:

  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31

Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy|optic atrophy, kjer type|oak|optic atrophy, juvenile

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY 1; OPA1

Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation|cmt2z|charcot-marie-tooth disease, axonal, autosomal dominant, type 2z|charcot-marie-tooth neuropathy, type 2z

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME Is also known as kyphoscoliosis-lateral tongue atrophy-hsp syndrome

Related symptoms:

  • Intellectual disability
  • Pain
  • Dysphagia
  • Talipes equinovarus
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME

MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

Top 5 symptoms//phenotypes associated to Hyperreflexia and Proximal muscle weakness

Symptoms // Phenotype % cases
Spastic gait Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Spastic paraplegia Uncommon - Between 30% and 50% cases
Paraplegia Uncommon - Between 30% and 50% cases
Lower limb spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hyperreflexia and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Babinski sign Skeletal muscle atrophy Pes cavus Strabismus Muscle weakness Difficulty walking Seizures Progressive spastic paraplegia Urinary urgency Lower limb muscle weakness EMG abnormality Generalized hypotonia Global developmental delay Intellectual disability Brisk reflexes Urinary incontinence Peripheral neuropathy Muscle cramps Abnormal pyramidal sign Hearing impairment

Rare Symptoms - Less than 30% cases

Difficulty running Hypertonia Distal sensory impairment Flexion contracture Toe walking Ataxia Scoliosis Cerebellar atrophy Cognitive impairment Motor delay Gait disturbance Dysphagia Lower limb hyperreflexia Dementia Limb muscle weakness Impaired vibration sensation in the lower limbs Abnormal lower-limb motor evoked potentials Abnormality of the cerebrospinal fluid Lower limb amyotrophy Hand muscle weakness Distal muscle weakness Degeneration of the lateral corticospinal tracts Sensory neuropathy Small hand Distal lower limb muscle weakness Lactic acidosis Gait ataxia Progressive cerebellar ataxia Increased serum lactate Stroke Developmental regression Gynecomastia Exercise intolerance Increased variability in muscle fiber diameter Intellectual disability, moderate Muscular hypotonia of the trunk Rigidity Myoclonus Dystonia Spinal rigidity Tremor Neck flexor weakness Increased connective tissue Decreased number of large peripheral myelinated nerve fibers Myokymia Onion bulb formation High pitched voice Sensory axonal neuropathy Neurodevelopmental delay Central hypotonia Axonal degeneration Tongue atrophy Hyporeflexia Respiratory insufficiency Cataract Microcephaly Short stature Hyperlordosis Upper limb amyotrophy Abnormal levels of creatine kinase in blood Muscular dystrophy Dysphonia Proximal muscle weakness in upper limbs Progressive muscle weakness Difficulty standing Gowers sign Elevated serum creatine phosphokinase Delayed gross motor development Knee flexion contracture Congenital muscular dystrophy Kyphoscoliosis Cerebral atrophy Talipes equinovarus Pain Focal T2 hypointense basal ganglia lesion Talipes cavus equinovarus Epilepsia partialis continua Increased intramyocellular lipid droplets Generalized tonic seizures Increased CSF lactate Hammertoe Optic neuropathy Foot dorsiflexor weakness Dysarthria Blindness Optic atrophy Visual impairment Sensorineural hearing impairment Proximal lower limb amyotrophy Hyperreflexia in upper limbs Proximal muscle weakness in lower limbs Impaired proprioception Bulbar signs Ankle clonus Spastic tetraparesis Tetraparesis Abnormal brainstem MRI signal intensity Visual loss Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Impaired distal vibration sensation Arthritis Progressive pes cavus Progressive spastic paraparesis Distal lower limb amyotrophy Impaired vibratory sensation Abnormality of the foot Spinal cord lesion Myopathy Glaucoma Sensorimotor neuropathy Progressive external ophthalmoplegia Fasciculations Clonus Split hand Sensory impairment Peripheral axonal neuropathy Areflexia Abnormal amplitude of pattern reversal visual evoked potentials Temporal optic disc pallor Centrocecal scotoma Tritanomaly Red-green dyschromatopsia Leber optic atrophy Dyschromatopsia Severe vision loss Reduced visual acuity Central scotoma Scotoma Visual field defect Abnormality of color vision Abnormality of mitochondrial metabolism External ophthalmoplegia Horizontal nystagmus Optic disc pallor Progressive visual loss Neurodegeneration Ophthalmoplegia Pallor Abnormality of the eye Increased adipose tissue


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