Dysarthria, and Proximal muscle weakness

Diseases related with Dysarthria and Proximal muscle weakness

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

Top matches:

Related symptoms:

  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia
  • Areflexia
  • Pneumonia


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8

Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F Is also known as lgmd1f|muscular dystrophy, limb-girdle, type 1f

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3 Is also known as progressive external ophthalmoplegia, autosomal recessive 3

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

Other less relevant matches:

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

Autosomal dominant spastic paraplegia type 31 (SPG31) is a type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31 Is also known as spg31

Related symptoms:

  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD Is also known as muscular dystrophy, oculopharyngeal

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME Is also known as mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME

Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate MyopathySee also TAM2 (OMIM ), caused by mutation in the ORAI1 gene (OMIM ) on chromosome 12q24.

MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 Is also known as tubular aggregate myopathy|myopathy, tubular aggregate|tam

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Dysarthria
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, TUBULAR AGGREGATE, 1; TAM1

Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y Is also known as charcot-marie-tooth disease, axonal, autosomal dominant, type 2y|cmt2y|autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation|cmt2 due to vcp mutation|charcot-marie-tooth neuropathy, type 2y

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

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

Top 5 symptoms//phenotypes associated to Dysarthria and Proximal muscle weakness

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Dysphagia Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Distal muscle weakness Lower limb muscle weakness Limb muscle weakness Ragged-red muscle fibers Ptosis Areflexia Babinski sign Difficulty running Pes cavus Mitochondrial myopathy Spasticity Ophthalmoplegia Distal sensory impairment Gait disturbance Scapular winging External ophthalmoplegia Progressive muscle weakness Gowers sign Amyotrophic lateral sclerosis Fatigue

Rare Symptoms - Less than 30% cases

Progressive proximal muscle weakness Ophthalmoparesis Generalized hypotonia Myositis Dementia Hearing impairment Ataxia Frequent falls Sensory impairment Sensorineural hearing impairment Toe walking Difficulty walking Abnormality of the foot Falls Unsteady gait Sensorimotor neuropathy Hyporeflexia Peripheral neuropathy Respiratory insufficiency Muscle cramps Increased serum lactate Facial palsy Flexion contracture Rimmed vacuoles Muscular dystrophy Centrally nucleated skeletal muscle fibers Hemiparesis EMG abnormality Absent Achilles reflex Focal impaired awareness seizure Metabolic acidosis Impaired vibration sensation in the lower limbs Episodic vomiting Hyperalaninemia Increased serum pyruvate Focal-onset seizure Acidosis Lactic acidosis Dysmetria Postnatal growth retardation Dystonia Gait imbalance Abnormality of peripheral nerve conduction Seizures Progressive ptosis Poor fine motor coordination Neck muscle weakness Mask-like facies Abnormal nerve conduction velocity Bilateral ptosis Vaginal fistula Type 2 muscle fiber atrophy Moderate sensorineural hearing impairment Paresthesia Hyporeflexia of lower limbs Weakness of the intrinsic hand muscles Behavioral abnormality Abnormal pupil morphology Dyspnea Exercise-induced myalgia Generalized muscle weakness Arthralgia Areflexia of lower limbs Abnormality of the nervous system Hyperlordosis Cough Peripheral axonal neuropathy Myalgia Distal amyotrophy Achilles tendon contracture Limb-girdle muscle weakness Proximal amyotrophy Increased variability in muscle fiber diameter Broad-based gait Easy fatigability Elbow flexion contracture Muscle stiffness Hammertoe Abnormal joint morphology Nyctalopia Pigmentary retinopathy Spastic gait Retinal degeneration Increased connective tissue Postural instability Polyneuropathy Inability to walk Cerebellar atrophy Motor delay Nystagmus Decreased activity of mitochondrial respiratory chain Progressive external ophthalmoplegia Late-onset distal muscle weakness Thenar muscle atrophy Autophagic vacuoles Pelvic girdle muscle weakness Shoulder girdle muscle weakness Waddling gait Spinal rigidity Calf muscle hypertrophy Limb-girdle muscular dystrophy EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Pallor Abnormality of metabolism/homeostasis Morphological abnormality of the pyramidal tract Postural tremor Fasciculations Neuronal loss in central nervous system Respiratory failure Pneumonia Progressive cerebellar ataxia Peripheral demyelination Frontal lobe dementia Bulbar signs Pseudobulbar signs Frontotemporal dementia Bulbar palsy Akinesia Abnormality of mitochondrial metabolism Parkinsonism Rigidity Cerebral cortical atrophy Proximal lower limb amyotrophy Hyperreflexia in upper limbs Hand muscle weakness Proximal muscle weakness in lower limbs Impaired proprioception Ankle clonus Split hand Lower limb hyperreflexia Urinary urgency Brisk reflexes Spastic tetraparesis Tetraparesis Small hand Paraplegia Spastic paraplegia Hypertonia Hyperreflexia Axonal degeneration Steppage gait Clumsiness Abnormality of hand joint mobility


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Dysphagia, related diseases and genetic alterations Motor delay and Increased serum lactate, related diseases and genetic alterations Myopathy and Polyneuropathy, related diseases and genetic alterations Cryptorchidism and Hyperinsulinemia, related diseases and genetic alterations Hypertension and Craniosynostosis, related diseases and genetic alterations Micrognathia and Microcornea, related diseases and genetic alterations