Spasticity, and Babinski sign

Diseases related with Spasticity and Babinski sign

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


Top matches:

High match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14


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

Medium match SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5


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

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28


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

Medium match X-LINKED SPASTIC PARAPLEGIA TYPE 34


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

Medium match AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72


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

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71


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

Medium match AMYOTROPHIC LATERAL SCLEROSIS TYPE 4


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

Medium match HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY


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 Spasticity and Babinski sign

Symptoms // Phenotype % cases
Hyperreflexia Very Common - Between 80% and 100% cases
Spastic gait Common - Between 50% and 80% cases
Lower limb spasticity Common - Between 50% and 80% cases
Spastic paraplegia Common - Between 50% and 80% cases
Lower limb muscle weakness Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Difficulty walking, related diseases and genetic alterations Melanoma and Azoospermia, related diseases and genetic alterations Hyperreflexia and Triangular face, related diseases and genetic alterations Obesity and Paraplegia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more