Muscle weakness, and Urinary incontinence

Diseases related with Muscle weakness and Urinary incontinence

In the following list you will find some of the most common rare diseases related to Muscle weakness and Urinary incontinence that can help you solving undiagnosed cases.


Top matches:

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13 Is also known as spg13

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hyperreflexia
  • Babinski sign
  • Pes cavus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 13

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

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


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

Mendelian

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

Learn more

Other less relevant matches:

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 6


Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 6 Is also known as spg6|familial spastic paraplegia, autosomal dominant, 3|fsp3

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Tremor


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 6

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37


Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37 Is also known as spg37

Related symptoms:

  • Seizures
  • Hyperreflexia
  • Fatigue
  • Babinski sign
  • Difficulty walking


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37

Low match PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7


Related symptoms:

  • Cognitive impairment
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Tremor
  • Babinski sign


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7

Low match METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY


METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48


Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48 Is also known as spg48

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48

Low match NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B


Hereditary sensory and autonomic neuropathy type IIB is an autosomal recessive neurologic disorder characterized by early childhood onset of distal sensory impairment usually resulting in ulceration and associated with variable autonomic features, such as hyperhidrosis and urinary incontinence. Some patients may show impaired gait (summary by Ilgaz Aydinlar et al., 2014).HSAN2A (OMIM ) is caused by mutation in the HSN2 isoform of the WNK1 gene (WNK1/HSN2; see {605232}). For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

Related symptoms:

  • Spasticity
  • Peripheral neuropathy
  • Gait disturbance
  • Areflexia
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8


Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8 Is also known as spg8

Related symptoms:

  • Ataxia
  • Pain
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8

Top 5 symptoms//phenotypes associated to Muscle weakness and Urinary incontinence

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

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Muscle weakness and Urinary incontinence. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Lower limb spasticity

Uncommon Symptoms - Between 30% and 50% cases


Urinary urgency

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Paraplegia

Common Symptoms - More than 50% cases


Impaired vibration sensation in the lower limbs

Uncommon Symptoms - Between 30% and 50% cases


Progressive spastic paraplegia Peripheral neuropathy Seizures Degeneration of the lateral corticospinal tracts Urinary bladder sphincter dysfunction Pes cavus Gait disturbance Limb muscle weakness Abnormality of the cerebrospinal fluid Progressive pes cavus Tremor Impaired vibratory sensation EMG abnormality Abnormal lower-limb motor evoked potentials Difficulty walking Clonus Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Parkinsonism Ataxia Global developmental delay Lower limb hyperreflexia Muscle cramps Upper limb spasticity Postural tremor Spinal cord lesion Dysarthria Hyporeflexia Hyperreflexia in upper limbs Dementia Proximal muscle weakness Mental deterioration Abnormality of the periventricular white matter Dysphagia Cognitive impairment Myoclonus Spastic tetraparesis Broad-based gait Decreased nerve conduction velocity Dysmetria Retinopathy Intellectual disability Motor deterioration Hypoplasia of the corpus callosum CNS demyelination Spastic hemiparesis Loss of speech Elevated serum creatine phosphokinase Intellectual disability, mild Hearing impairment Osteolytic defects of the phalanges of the hand Abnormality of the cervical spine Autoamputation of digits Peroneal muscle atrophy Low back pain Progressive spasticity Back pain Limb ataxia Arthralgia Pain Slow pupillary light response Episodic hyperhidrosis Acral ulceration Hyperintensity of cerebral white matter on MRI Hemiparesis Osteomyelitis Abnormal autonomic nervous system physiology Sensory impairment Distal sensory impairment Vertigo Peripheral axonal neuropathy Hyperhidrosis Areflexia Leukodystrophy Rigidity Tetraparesis Sensory neuropathy Abnormal brainstem MRI signal intensity Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Impaired distal vibration sensation Distal muscle weakness Limited hip movement Arthritis Strabismus Progressive spastic paraparesis Distal lower limb muscle weakness Distal lower limb amyotrophy Abnormality of the foot Abnormal pyramidal sign Rod-cone dystrophy Generalized tonic-clonic seizures Limitation of movement at ankles Peripheral demyelination Blepharospasm Polyneuropathy Developmental regression Gait ataxia Muscular hypotonia Generalized hypotonia Bulimia Psychotic episodes Resting tremor Fatigue Amyotrophic lateral sclerosis Fasciculations Bradykinesia Aggressive behavior Anxiety Scoliosis Respiratory failure Ankle clonus Limb dysmetria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Osteopenia, related diseases and genetic alterations Lymphoma and Fever, related diseases and genetic alterations High palate and Sparse and thin eyebrow, related diseases and genetic alterations Strabismus and Split hand, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more