Muscle weakness, and Hyperhidrosis

Diseases related with Muscle weakness and Hyperhidrosis

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

Top matches:

NMAN is an autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 (see, e.g., CMT2A1, {118210}) and distal hereditary motor neuropathy (see, e.g., HMN1, {182960}). Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves (summary by Zimon et al., 2012).

NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN Is also known as myokymia, myotonia, and muscle wasting|gamstorp-wohlfart syndrome

Related symptoms:

  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance
  • Hyporeflexia
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MENDELIAN

More info about NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE; NMAN

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE Is also known as generalized ebs, non-dowling-meara type|epidermolysis bullosa simplex, kÖbner type|generalized epidermolysis bullosa simplex, non-dowling-meara type|ebs, generalized intermediate|epidermolysis bullosa simplex, koebner type

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE

Other less relevant matches:

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

Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE

NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

Low match INSULINOMA

Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.

Related symptoms:

  • Seizures
  • Tremor
  • Fatigue
  • Behavioral abnormality
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about INSULINOMA

Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Top 5 symptoms//phenotypes associated to Muscle weakness and Hyperhidrosis

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Abnormal autonomic nervous system physiology Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pain Motor delay Gait disturbance Hyporeflexia Spasticity Failure to thrive Ptosis Dyskinesia Urinary incontinence Abnormality of the foot Lower limb muscle weakness Peripheral axonal neuropathy Tremor Cognitive impairment Global developmental delay

Rare Symptoms - Less than 30% cases

Hypertonia Poor head control Fatigue Dysarthria Hyperreflexia Muscular hypotonia of the trunk Sleep disturbance Ataxia Parkinsonism Behavioral abnormality Hypomimic face Oculogyric crisis Growth delay Microcephaly Anxiety Fever Myoclonus Abnormality of movement Small for gestational age Choreoathetosis Involuntary movements Hyperkinesis Athetosis Skeletal muscle atrophy Talipes equinovarus Intellectual disability Abnormality of eye movement Limb muscle weakness Elevated serum creatine phosphokinase Constipation Muscle stiffness Sensory impairment Pain insensitivity Distal sensory impairment Respiratory insufficiency Areflexia Reduced consciousness/confusion Diaphragmatic weakness Babinski sign Nocturnal hypoventilation Hyperactivity Rigidity Hearing abnormality Aggressive behavior Irritability Inspiratory stridor Hyperinsulinemic hypoglycemia Abnormal pyramidal sign Diaphragmatic paralysis Poor speech Diaphragmatic eventration Degeneration of anterior horn cells Bradykinesia Peripheral axonal degeneration Delayed speech and language development Primary hyperparathyroidism Reactive hypoglycemia Pituitary prolactin cell adenoma Nonketotic hypoglycemia Neuroendocrine neoplasm Fasting hyperinsulinemia Abnormality of higher mental function Zollinger-Ellison syndrome Abnormal rapid eye movement sleep Transient global amnesia Nystagmus Neoplasm of the adrenal gland Fluctuations in consciousness Abnormality of pain sensation Abnormality of the pancreatic islet cells Apraxia Recurrent hypoglycemia Ventilator dependence with inability to wean Abnormality of extrapyramidal motor function Truncal ataxia Progressive neurologic deterioration Camptodactyly of finger Decreased nerve conduction velocity Temperature instability Tachypnea Severe muscular hypotonia Progressive muscle weakness Decreased fetal movement Premature birth Distal amyotrophy Distal muscle weakness Spinal muscular atrophy Paralysis Hyperphenylalaninemia Transient hyperphenylalaninemia Muscular hypotonia Flexion contracture Feeding difficulties Intrauterine growth retardation Respiratory distress Polyphagia Excessive daytime sleepiness Clonus Hypoventilation Respiratory failure Horizontal nystagmus EMG: neuropathic changes Oculomotor apraxia Recurrent lower respiratory tract infections Cerebral palsy Drooling Postural tremor Agitation Hypersomnia Drowsiness Weak cry Limb hypertonia Generalized dystonia Abnormality of the nose Excessive salivation Abnormality of the tongue Axonal degeneration Insomnia Short stature Hyperinsulinemia Episodic hyperhidrosis Subcutaneous hemorrhage Generalized hyperkeratosis Vertigo Spastic gait Osteomyelitis Osteolytic defects of the phalanges of the hand Acral ulceration Autoamputation of digits Slow pupillary light response Oral leukoplakia Depressivity Postnatal microcephaly Spastic tetraparesis Nasal speech Dysdiadochokinesis Stridor Limb dystonia Abnormality of the vasculature Abnormal pattern of respiration Fatigable weakness Orofacial dyskinesia Diarrhea Muscle cramps Fasciculations Foot dorsiflexor weakness Myotonia Sensory axonal neuropathy Muscle fibrillation Myokymia Percussion myotonia Pruritus Milia Joint dislocation Axonal loss Chronic constipation Palmoplantar keratoderma Abnormal blistering of the skin Abnormality of the nail Abnormality of dental enamel Ophthalmoparesis Shuffling gait Stooped posture Abnormality of vision Hyposmia Hepatic failure Recurrent fractures Hypohidrosis Anosmia Steppage gait Anhidrosis Bowel incontinence Decreased number of peripheral myelinated nerve fibers Recurrent corneal erosions Intellectual disability, mild Acetabular dysplasia Painless fractures due to injury Lethargy Paresthesia Coma Generalized muscle weakness Palpitations Increased body weight Elevated hepatic transaminase Hepatomegaly Inappropriate crying Encephalopathy Abnormality of coordination Hypertension Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar atrophy Renal insufficiency Cerebral atrophy Absent speech Tachycardia Sensorineural hearing impairment Tetraplegia Chorea Focal-onset seizure Infantile muscular hypotonia Focal impaired awareness seizure Self-injurious behavior Atrophy/Degeneration affecting the brainstem Hearing impairment Denervation of the diaphragm


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