Muscle weakness, and Dystonia

Diseases related with Muscle weakness and Dystonia

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

Top matches:

Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

ATAXIA-OCULOMOTOR APRAXIA TYPE 4 Is also known as aoa4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cognitive impairment
  • Peripheral neuropathy
  • Cerebellar atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 4

Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.

PAROXYSMAL KINESIGENIC DYSKINESIA Is also known as dystonia 10|pkd|paroxysmal kinesigenic choreathetosis|dystonia, familial paroxysmal|pkc|familial paroxysmal kinesigenic dyskinesia|familial pkd|paroxysmal kinesigenic dyskinesia|dyt10|paroxysmal kinesigenic choreoathetosis

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Dystonia
  • Myoclonus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL KINESIGENIC DYSKINESIA

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

Other less relevant matches:

Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.

Related symptoms:

  • Global developmental delay
  • Elevated serum creatine phosphokinase
  • Neonatal hypotonia
  • Proximal muscle weakness
  • Facial palsy


SOURCES: ORPHANET MENDELIAN

More info about ZEBRA BODY MYOPATHY

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 13 Is also known as coxpd13

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 13

Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by Estrada-Cuzcano et al., 2017).Biallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS ), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).

ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS Is also known as juvenile parkinsonism-neuronal ceroid lipofuscinosis|cln12 disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY Is also known as congenital muscular dystrophy with itga7 deficiency|myopathy, congenital, due to integrin alpha-7 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY Is also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY

SURF1-related Charcot-Marie-Tooth disease type 4 is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).

SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4 Is also known as charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4k|charcot-marie-tooth disease type 4k|surf1-related cmt4|charcot-marie-tooth neuropathy, demyelinating, autosomal recessive, type 4k|surf1-related severe demyelinating charcot-marie-to

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about SURF1-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 4

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

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

Symptoms // Phenotype % cases
Ataxia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Myoclonus Uncommon - Between 30% and 50% cases
Bradykinesia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Rigidity Motor delay Generalized hypotonia Choreoathetosis Hyperreflexia Peripheral neuropathy

Rare Symptoms - Less than 30% cases

Seizures Decreased nerve conduction velocity Tetraplegia Intellectual disability Dysphagia Dementia Axonal loss Global developmental delay Areflexia Elevated serum creatine phosphokinase Neonatal hypotonia Distal muscle weakness Waddling gait Distal sensory impairment Torticollis Nystagmus Gowers sign Babinski sign Parkinsonism Chorea Depressivity Dyskinesia Postural tremor Cerebellar atrophy Aggressive behavior Resting tremor Tremor Postural instability Congenital muscular dystrophy Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Increased variability in muscle fiber diameter Abnormal cerebellum morphology Diffuse cerebral atrophy Dyspnea Congenital hip dislocation Muscular dystrophy Supranuclear gaze palsy Myopathy Scoliosis Spastic tetraplegia Hallucinations Abnormal caudate nucleus morphology Upgaze palsy Fatty replacement of skeletal muscle Myokymia Neurogenic bladder Parkinsonism with favorable response to dopaminergic medication Pallor Muscular hypotonia Respiratory failure Sensory impairment Increased serum lactate Peripheral demyelination Horizontal nystagmus Easy fatigability Demyelinating peripheral neuropathy Anxiety Difficulty walking Limb muscle weakness Lower limb muscle weakness Urinary incontinence Fasciculations Amyotrophic lateral sclerosis Blepharospasm Psychotic episodes Lactic acidosis Kyphoscoliosis Ptosis Poor head control Delayed speech and language development Hypertonia Falls Abnormality of extrapyramidal motor function Hypsarrhythmia Clonus Hyperkinesis Agitation Acidosis Opisthotonus Restlessness Drowsiness Excessive salivation Oculogyric crisis Hearing impairment Sensorineural hearing impairment Polyneuropathy Cerebral atrophy Paraplegia Writer's cramp Chronic constipation Joint dislocation Abnormal autonomic nervous system physiology Pruritus Hyperhidrosis Constipation Diarrhea Pain Failure to thrive Apraxia Paroxysmal choreoathetosis Focal sensory seizure Paroxysmal dystonia Paroxysmal dyskinesia Orofacial dyskinesia Proximal muscle weakness Neoplasm of the endocrine system Hypoparathyroidism Hyperventilation Loss of consciousness Athetosis Cerebral palsy Abnormality of the face Involuntary movements Oculomotor apraxia Focal-onset seizure Migraine Paresthesia Abnormality of movement Impaired vibratory sensation Pain insensitivity Facial palsy Abnormality of eye movement Muscular hypotonia of the trunk Spastic paraplegia Mental deterioration Gait ataxia Cerebral cortical atrophy Pes cavus Neoplasm Hypoplasia of the corpus callosum Fatigue Gait disturbance Dysarthria Spasticity Strabismus Limb dystonia Severe muscular hypotonia Hyporeflexia Decreased fetal movement Myofibrillar myopathy EMG: myopathic abnormalities Limb-girdle muscular dystrophy Difficulty climbing stairs Rimmed vacuoles Neck muscle weakness Nemaline bodies Axial muscle weakness Absent speech Muscle fiber splitting Autophagic vacuoles Muscle fiber necrosis Handgrip myotonia Growth delay Feeding difficulties Bulimia


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