Spasticity, and Distal amyotrophy

Diseases related with Spasticity and Distal amyotrophy

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


Top matches:

Low match AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9


Related symptoms:

  • Spasticity
  • Dementia
  • Distal muscle weakness
  • Distal amyotrophy
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9

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 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B


Distal hereditary motor neuronopathy type VB is an autosomal dominant neurologic disorder characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus (summary by Beetz et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1 ).

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B Is also known as dhmn5b|spinal muscular atrophy, distal, type vb|hmn vb|dhmn vb|neuropathy, distal hereditary motor, type vb|dsmavb

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Gait disturbance
  • Hypertonia
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB; HMN5B

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39


This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE ID; HSN1D


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

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57


Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57 Is also known as spastic paraplegia due to partial tfg deficiency|spg57

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57

Low match COASY PROTEIN-ASSOCIATED NEURODEGENERATION


COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

COASY PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as copan|neurodegeneration with brain iron accumulation due to coasy mutation|nbia6

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COASY PROTEIN-ASSOCIATED NEURODEGENERATION

Low match AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5


Autosomal recessive juvenile amyotrophic lateral sclerosis-5 is a neurodegenerative disorder characterized by onset of upper and lower motor neuron signs before age 25. Affected individuals have progressive spasticity of limb and facial muscles associated with distal amyotrophy. The disorder is slowly progressive, with cases of prolonged survival of more than 3 decades (summary by Orlacchio et al., 2010).For a phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis (ALS), see ALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE; ALS5

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17


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

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73


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

Top 5 symptoms//phenotypes associated to Spasticity and Distal amyotrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Spasticity and Distal amyotrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Paraplegia

Uncommon Symptoms - Between 30% and 50% cases


Spastic paraplegia Distal muscle weakness Pes cavus Spastic gait Hyporeflexia Motor axonal neuropathy Lower limb spasticity Difficulty walking Hand muscle weakness Cognitive impairment Gait disturbance Areflexia Hypertonia Amyotrophic lateral sclerosis

Rare Symptoms - Less than 30% cases


Paraparesis Dysarthria Distal lower limb amyotrophy Dementia Distal sensory impairment Peripheral axonal neuropathy Distal lower limb muscle weakness Progressive spastic paraplegia Abnormality of the foot Impaired vibration sensation in the lower limbs Spastic paraparesis Sensory impairment Pes planus Spinal muscular atrophy Lower limb muscle weakness Lower limb hypertonia Thenar muscle atrophy Thenar muscle weakness First dorsal interossei muscle weakness First dorsal interossei muscle atrophy Parkinsonism Limb hypertonia Respiratory insufficiency due to muscle weakness Fasciculations Progressive spasticity Bulbar signs Abnormal lower motor neuron morphology Abnormal pyramidal sign Hypoplasia of the corpus callosum Abnormal corpus striatum morphology Abnormal caudate nucleus morphology Eye of the tiger anomaly of globus pallidus Abnormality of thalamus morphology Tremor Motor tics Abnormal globus pallidus morphology Oromandibular dystonia Tics Toe walking Obsessive-compulsive behavior Decreased number of large peripheral myelinated nerve fibers Decreased motor nerve conduction velocity Frontotemporal dementia Proximal muscle weakness Progressive pes cavus Abnormality of the cerebrospinal fluid Progressive spastic paraparesis Degeneration of the lateral corticospinal tracts Urinary urgency Impaired vibratory sensation EMG abnormality Urinary incontinence Seizures Small hand Abnormal motor nerve conduction velocity Abnormality of the foot musculature Ankle weakness Knee pain Hand muscle atrophy Hip pain Postural tremor Limb muscle weakness Split hand Foot dorsiflexor weakness Neurodegeneration Tetraparesis Nail dystrophy Distal sensory loss of all modalities Osteomyelitis Sensory axonal neuropathy Cerebral palsy Nail dysplasia Sensory neuropathy Upper limb muscle weakness Paresthesia Pain Intellectual disability Generalized limb muscle atrophy Atrophy of the spinal cord Peroneal muscle weakness Gait ataxia Cerebellar atrophy Abnormality of the skeletal system Cold-induced hand cramps Ataxia Autoamputation Optic atrophy Spastic tetraplegia Behavioral abnormality Bradykinesia Tetraplegia Peroneal muscle atrophy Developmental regression Mental deterioration Rigidity Depressivity Dystonia Abnormality of the Achilles tendon Visual loss Difficulty standing Abnormal myelination Motor polyneuropathy Abnormality of peripheral nerve conduction Hammertoe Difficulty climbing stairs Sensorimotor neuropathy Brisk reflexes Inability to walk Abnormal lower-limb motor evoked potentials



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