Abnormality of the skeletal system, and Babinski sign

Diseases related with Abnormality of the skeletal system and Babinski sign

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


Top matches:

Low 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

Low match STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL


STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL Is also known as bilateral striatal necrosis, infantile, mitochondrial|infantile bilateral striatal necrosis, mitochondrial

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Babinski sign
  • Difficulty walking


SOURCES: OMIM MESH MENDELIAN

More info about STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

Low 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

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Other less relevant matches:

Low 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

Low 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

Low match DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2


Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 (OMIM ).

DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2 Is also known as hmnj|dhmn2|distal spinal muscular atrophy type 2|neuronopathy, distal hereditary motor, jerash type|neuropathy, distal hereditary motor, jerash type|dsma2|spinal muscular atrophy, jerash type

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Hyporeflexia
  • Babinski sign


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2

Low 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

Low 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

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Babinski sign

Symptoms // Phenotype % cases
Hyperreflexia Common - Between 50% and 80% cases
Spastic gait Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Pes cavus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Babinski sign. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spastic paraplegia

Uncommon Symptoms - Between 30% and 50% cases


Lower limb spasticity Paraplegia Lower limb muscle weakness Difficulty walking Distal muscle weakness Limb muscle weakness Skeletal muscle atrophy Brisk reflexes Clonus Sensory impairment

Rare Symptoms - Less than 30% cases


Hammertoe Spinal muscular atrophy Distal amyotrophy Rigidity Hyporeflexia Pain Muscle weakness Ankle clonus Impaired vibratory sensation Global developmental delay Hypertonia Gait disturbance Motor axonal neuropathy Lower limb hypertonia Intellectual disability, mild Abnormal pyramidal sign Urinary bladder sphincter dysfunction Toe walking Postural tremor Muscle stiffness Memory impairment Tremor Limb pain Lower limb pain Shuffling gait Impaired vibration sensation in the lower limbs Upper limb spasticity Hypoplasia of the corpus callosum Impaired vibration sensation at ankles Abnormality of higher mental function Amyotrophic lateral sclerosis Abnormality of movement EMG abnormality Progressive spastic paraplegia Diffuse axonal swelling Peripheral axonal degeneration Abnormal upper motor neuron morphology Hand tremor Degeneration of anterior horn cells Abnormal myelination Abnormal lower motor neuron morphology Axonal loss Axonal degeneration Intellectual disability First dorsal interossei muscle weakness Decreased motor nerve conduction velocity Hand muscle weakness Progressive spasticity Generalized hypotonia Muscular hypotonia Frequent falls Ragged-red muscle fibers Decreased light- and dark-adapted electroretinogram amplitude Paroxysmal choreoathetosis Cognitive impairment Talipes equinovarus Areflexia Pes planus Limb hypertonia Upper limb muscle weakness Thenar muscle atrophy Foot dorsiflexor weakness Peroneal muscle weakness Thenar muscle weakness First dorsal interossei muscle atrophy Cold-induced hand cramps Scoliosis Unsteady gait Peripheral axonal neuropathy Distal sensory impairment Postural instability Pain insensitivity Impaired tactile sensation Abolished vibration sense Split hand Pallor of dorsal columns of the spinal cord



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