Generalized hypotonia, and Lower limb muscle weakness

Diseases related with Generalized hypotonia and Lower limb muscle weakness

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Lower limb muscle weakness that can help you solving undiagnosed cases.

Top matches:

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY Is also known as young adult-onset dhmn|autosomal recessive distal spinal muscular atrophy type 5|dsma5

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B Is also known as lgmd2b|limb-girdle muscular dystrophy due to dysferlin deficiency|muscular dystrophy, limb-girdle, type 3|lgmd3|muscular dystrophy, limb-girdle, type 2b

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Abnormality of the skeletal system


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B

Other less relevant matches:

Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY Is also known as guillain-barrÉ syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|aidp|acute inflammatory polyneuropathy|acute idiopathic demyelinating polyneuropathy|gbs, acute inflammatory demyelinating polyradiculoneuropathic form

Related symptoms:

  • Generalized hypotonia
  • Hyporeflexia
  • Gait ataxia
  • Unsteady gait
  • Drooling


SOURCES: ORPHANET MENDELIAN

More info about ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS Is also known as autosomal recessive axonal charcot-marie-tooth disease type 2k|autosomal recessive axonal cmt4c4|charcot-marie-tooth disease, axonal, autosomal recessive, type 2k|arcmt2k|charcot-marie-tooth neuropathy, axonal, type 2k

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).

HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS Is also known as hereditary motor and sensory neuropathy type iii|dsn|hmsn3|dss|dejerine-sottas syndrome|cmt3|charcot-marie-tooth disease, type 3|dejerine-sottas neuropathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS

SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements. Brain MRI shows cerebellar ataxia (summary by Bertini et al., 2000). Genetic Heterogeneity of X-linked Spinocerebellar AtaxiaX-linked recessive spinocerebellar ataxia (SCAX) is a clinically and genetically heterogeneous disorder. See also SCAX2 (OMIM ), SCAX3 (OMIM ), SCAX4 (OMIM ), and SCAX5 (OMIM ).

X-LINKED PROGRESSIVE CEREBELLAR ATAXIA Is also known as olivopontocerebellar atrophy, x-linked|opca, x-linked|opcax

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED PROGRESSIVE CEREBELLAR ATAXIA

Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation|cmt2z|charcot-marie-tooth disease, axonal, autosomal dominant, type 2z|charcot-marie-tooth neuropathy, type 2z

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Lower limb muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Limb muscle weakness Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Distal muscle weakness Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Lower limb muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Distal sensory impairment Proximal muscle weakness Areflexia Peripheral neuropathy Pes cavus Difficulty walking Scoliosis Sensory impairment Foot dorsiflexor weakness Gait disturbance Split hand Abnormal pyramidal sign Distal lower limb muscle weakness Hyporeflexia Onion bulb formation Ataxia Abnormality of the foot Nystagmus Spasticity Myopathy Sensorimotor neuropathy Babinski sign Unsteady gait Peripheral axonal neuropathy Dysphagia Fatigue Steppage gait

Rare Symptoms - Less than 30% cases

Facial palsy Dysphonia Talipes equinovarus Kyphoscoliosis Distal amyotrophy Decreased motor nerve conduction velocity Decreased number of peripheral myelinated nerve fibers Hearing impairment Cerebellar atrophy Dysarthria EMG: neuropathic changes Sensory neuropathy Polyneuropathy Progressive cerebellar ataxia Waddling gait Clumsiness Flexion contracture Muscle cramps Hammertoe Global developmental delay Peripheral demyelination Fasciculations Gait ataxia Elevated serum creatine phosphokinase Paralysis Progressive muscle weakness Infantile muscular hypotonia Increased variability in muscle fiber diameter Increased connective tissue Calf muscle hypertrophy Incoordination Sensory axonal neuropathy Hypertrophic nerve changes Limb ataxia Difficulty standing Hyperreflexia Strabismus Decreased number of large peripheral myelinated nerve fibers Dysdiadochokinesis Lower limb hyperreflexia Saccadic smooth pursuit Ulnar claw Segmental peripheral demyelination/remyelination Sensory ataxia Miosis Demyelinating peripheral neuropathy Increased CSF protein Hypertonia Spastic gait Spastic dysarthria Tremor Intention tremor Decreased/absent ankle reflexes Brisk reflexes Lower limb spasticity Urinary incontinence Action tremor Frequent falls High pitched voice Dysmetria Clonus Distal lower limb amyotrophy Myokymia Slow saccadic eye movements Cerebellar vermis atrophy Progressive gait ataxia Spinocerebellar tract degeneration Neonatal hypotonia Axonal loss Vocal cord paresis Generalized muscle weakness Respiratory insufficiency Difficulty running Difficulty climbing stairs Congenital muscular dystrophy Limb-girdle muscular dystrophy EMG: myopathic abnormalities Muscular dystrophy Abnormality of the skeletal system Feeding difficulties Drooling High palate Ptosis Progressive distal muscle weakness Peroneal muscle atrophy Motor axonal neuropathy Spinal muscular atrophy Paresthesia Muscle fiber splitting Episodic fever Respiratory distress Gowers sign Muscular hypotonia Centrally nucleated skeletal muscle fibers Rimmed vacuoles Easy fatigability Scapular winging Hyperlordosis Axonal degeneration Postural instability Dysesthesia Inability to walk Axonal regeneration Hand muscle atrophy Abnormal cranial nerve morphology Decreased nerve conduction velocity Impaired oropharyngeal swallow response Sleepy facial expression Acute demyelinating polyneuropathy Neck flexor weakness


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