Hyperreflexia, and Babinski sign

Diseases related with Hyperreflexia and Babinski sign

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

Top matches:

Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14 Is also known as spg14

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Gait disturbance


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Talipes equinovarus
  • Babinski sign


SOURCES: MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5 Is also known as spinal muscular atrophy, distal, with upper limb predominance|dhmn va|hmn5|hmn va|neuropathy, distal hereditary motor, type va|distal spinal muscular atrophy type 5|spinal muscular atrophy, distal, type va|dsmav|dhmn5|distal hereditary motor neuropathy ty

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5

Other less relevant matches:

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

X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.

X-LINKED SPASTIC PARAPLEGIA TYPE 34 Is also known as spg34

Related symptoms:

  • Pain
  • Spasticity
  • Hyperreflexia
  • Babinski sign
  • Spastic paraplegia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED SPASTIC PARAPLEGIA TYPE 34

Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.

AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72 Is also known as spg72

Related symptoms:

  • Pain
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72

Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71 Is also known as spg71

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71

Childhood- and adolescent-onset forms of familial ALS (see ALS1, {105400}) carry the designation 'juvenile ALS.' Several forms of autosomal recessive juvenile ALS have been identified; see ALS2 (OMIM ) and ALS5 (OMIM ).

AMYOTROPHIC LATERAL SCLEROSIS TYPE 4 Is also known as als4|neuronopathy, distal hereditary motor, with pyramidal features|distal hereditary motor neuropathy with upper motor neuron signs|dhmn with upper motor neuron signs

Related symptoms:

  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Gait disturbance
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS TYPE 4

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Nystagmus
  • Strabismus
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1

Hypomyelination with brain stem and spinal cord involvement and leg spasticity is a rare, genetic, leukodystrophy disorder characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.

HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY Is also known as hbsl|aspartyl-trna synthetase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY

Top 5 symptoms//phenotypes associated to Hyperreflexia and Babinski sign

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

Other less frequent symptoms

Patients with Hyperreflexia and Babinski sign. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Peripheral neuropathy Pes cavus Paraplegia Brisk reflexes Clonus Difficulty walking Intellectual disability Intellectual disability, mild Limb muscle weakness

Rare Symptoms - Less than 30% cases

Impaired vibratory sensation Pain Distal muscle weakness Rigidity Hypoplasia of the corpus callosum Nystagmus Sensory impairment Gait disturbance Skeletal muscle atrophy Lower limb hypertonia Hypertonia Ankle clonus Cognitive impairment Motor axonal neuropathy Areflexia Axonal degeneration Amyotrophic lateral sclerosis Abnormal pyramidal sign Abnormal myelination Progressive spastic paraplegia Hand tremor EMG abnormality Abnormality of movement Global developmental delay Abnormality of higher mental function Impaired vibration sensation at ankles Axonal loss Degeneration of anterior horn cells Abnormal lower motor neuron morphology Hyperactive deep tendon reflexes Leukoencephalopathy Abnormality of the cerebral white matter Pallor Muscular hypotonia of the trunk Motor delay Generalized hypotonia EEG abnormality Urinary bladder sphincter dysfunction Strabismus Microcephaly Pallor of dorsal columns of the spinal cord Diffuse axonal swelling Peripheral axonal degeneration Abnormal upper motor neuron morphology Upper limb spasticity Memory impairment Toe walking Scoliosis Pes planus Muscle weakness Distal amyotrophy Spinal muscular atrophy Hammertoe Limb hypertonia Upper limb muscle weakness Hand muscle weakness Thenar muscle atrophy Peroneal muscle weakness Thenar muscle weakness First dorsal interossei muscle weakness First dorsal interossei muscle atrophy Cold-induced hand cramps Talipes equinovarus Postural tremor Impaired vibration sensation in the lower limbs Muscle stiffness Hyporeflexia Tremor Limb pain Lower limb pain Shuffling gait Progressive spasticity Unsteady gait Abolished vibration sense Impaired tactile sensation Pain insensitivity Postural instability Distal sensory impairment Peripheral axonal neuropathy CNS hypomyelination


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