Hyperreflexia, and Distal sensory impairment

Diseases related with Hyperreflexia and Distal sensory impairment

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

Top matches:

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2H Is also known as cmt2h|ar-cmt2c|axonal charcot-marie-tooth disease with pyramidal involvement|autosomal recessive axonal cmt4c2|charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive|charcot-marie-tooth neuropathy, axonal, with pyramidal feature

Related symptoms:

  • Skeletal muscle atrophy
  • Pes cavus
  • Distal muscle weakness
  • Distal amyotrophy
  • Distal sensory impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2H

Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28 Is also known as spg28

Related symptoms:

  • Scoliosis
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28

Other less relevant matches:

Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011).For a discussion of genetic heterogeneity of HSAN, see HSAN1A (OMIM ).Spastic paraplegia-3A (SPG3A ) is an allelic disorder with a different phenotype.

Related symptoms:

  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C Is also known as neuropathy, hereditary sensory, type ic|hsn1c|hsn ic|hsan ic

Related symptoms:

  • Seizures
  • Scoliosis
  • Muscle weakness
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC; HSAN1C

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17 Is also known as silver spastic paraplegia syndrome|silver syndrome|spastic paraplegia-amyotrophy of hands and feet|spg17|spastic paraplegia with amyotrophy of hands and feet

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17

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

Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43 Is also known as spg43

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43

CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a|microduplication 17p12|charcot-marie-tooth neuropathy, type 1f

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

Autosomal spastic paraplegia type 30 is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.

AUTOSOMAL SPASTIC PARAPLEGIA TYPE 30 Is also known as spg30

Related symptoms:

  • Ataxia
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL SPASTIC PARAPLEGIA TYPE 30

Top 5 symptoms//phenotypes associated to Hyperreflexia and Distal sensory impairment

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Distal muscle weakness Common - Between 50% and 80% cases
Pes cavus Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Paraplegia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Distal sensory impairment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Spastic paraplegia

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy

Common Symptoms - More than 50% cases

Distal amyotrophy

Uncommon Symptoms - Between 30% and 50% cases

Spastic gait Babinski sign Spasticity Peripheral axonal neuropathy Sensory impairment Lower limb spasticity Gait disturbance Sensory neuropathy Hyporeflexia Lower limb muscle weakness Limb muscle weakness

Rare Symptoms - Less than 30% cases

Distal sensory loss of all modalities Paresthesia Autoamputation Spastic paraparesis Abnormality of the foot Sensorimotor neuropathy Cerebellar atrophy Generalized hypotonia Impaired vibration sensation in the lower limbs Osteomyelitis Unsteady gait Areflexia Absent Achilles reflex Foot dorsiflexor weakness Axonal regeneration Decreased number of peripheral myelinated nerve fibers Progressive spastic paraplegia Scoliosis Hyperactive patellar reflex Difficulty walking Abnormal pyramidal sign Kyphoscoliosis Infantile muscular hypotonia Motor delay Intellectual disability Flexion contracture of finger Poor fine motor coordination Demyelinating sensory neuropathy Impaired distal tactile sensation Ankle contracture Abnormal brainstem MRI signal intensity Bulbar palsy Progressive spasticity Brisk reflexes Impaired vibratory sensation Knee flexion contracture Mental deterioration Visual loss Dysarthria Flexion contracture Decreased motor nerve conduction velocity Global developmental delay Calf muscle hypertrophy Spontaneous pain sensation Leg muscle stiffness Diffuse cerebellar atrophy Abnormal saccadic eye movements Lower limb amyotrophy Urinary bladder sphincter dysfunction Ankle clonus Lower limb hyperreflexia Abnormal cerebellum morphology Dysmetria Ataxia Clusters of axonal regeneration Acute demyelinating polyneuropathy Onion bulb formation Impaired distal proprioception Shoulder pain Myelin outfoldings Decreased sensory nerve conduction velocity Segmental peripheral demyelination/remyelination Diaphragmatic weakness Progressive peripheral neuropathy Sensory ataxia Gait imbalance Demyelinating peripheral neuropathy Hyperactive deep tendon reflexes Demyelinating motor neuropathy Lower limb hypertonia Impaired temperature sensation Cerebral palsy Pes planus Hypertonia Tremor Hand clenching Dysesthesia Anhidrosis Abnormal autonomic nervous system physiology Skin ulcer Seizures Sensory axonal neuropathy Nail dysplasia Split hand Nail dystrophy Pain Abolished vibration sense Impaired tactile sensation Pain insensitivity Postural instability Rigidity Hyperreflexia in upper limbs Steppage gait Paralysis Small hand Paraparesis Impaired distal vibration sensation Thenar muscle weakness Urinary urgency Urinary incontinence Arthritis Proximal muscle weakness Dementia Strabismus Abnormal motor nerve conduction velocity First dorsal interossei muscle weakness First dorsal interossei muscle atrophy Abnormality of the foot musculature Ankle weakness Spinal muscular atrophy Knee pain Thenar muscle atrophy Hand muscle atrophy Hip pain Short stature Hand muscle weakness Motor axonal neuropathy Limb hypertonia Amyotrophic lateral sclerosis Postural tremor Scissor gait


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